Clinical Features Di Fonzo et al. (2009) reported a consanguineous Moroccan family including 3 children with congenital cataract, muscular hypotonia, sensorineural hearing loss, and developmental delay. The first child presented in the first month of life with congenital cataract and axial hypotonia. ... His 2 brothers had similar manifestations. Muscle biopsies from the first 2 sibs showed scattered COX-negative fibers.
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.
Boston exanthem disease Specialty Dermatology Boston exanthem disease is a cutaneous condition that first occurred as an epidemic in Boston in 1951. [1] It is caused by echovirus 16. [2] : 398 The disease tends to afflict children more often than adults, although some adults can become infected, and the symptoms have never been fatal. It shows some clinical similarity to Rubella [3] and Human herpesvirus 6 [4] Contents 1 Outbreaks 1.1 Boston, 1951 1.2 Pittsburgh, 1954 2 See also 3 References Outbreaks [ edit ] Boston, 1951 [ edit ] The first known outbreak of Boston exanthem disease occurred in late summer of 1951 in Boston, Massachusetts . ... Through surveys sent to physicians, 18 cases were identified and specimens collected, 15 children and 3 adults. [3] Pittsburgh, 1954 [ edit ] An outbreak was first identified in a suburb of Pittsburgh, Pennsylvania in June, 1954.
Breast, lung, stomach, pancreas, and prostate cancers are the most common tumors that result in lymphangitis. Lymphangitis carcinomatosa was first described by pathologist Gabriel Andral in 1829 in a patient with uterine cancer . ... Prognosis [ edit ] Previously, the finding of lymphangitis carcinomatosis meant about a six-month life expectancy. [2] However, improved treatment has improved survival in patients with lymphangitis carcinomatosis, with patients often surviving three or more years with treatment. [2] History [ edit ] Lymphangitis carcinomatosa was first described by pathologist Gabriel Andral in 1829 in a patient with uterine cancer . [3] See also [ edit ] Lymphangitis References [ edit ] ^ Bruce DM, Heys SD, Eremin O (February 1996). ... "Gabriel Andral (1797–1876) and the first reports of lymphangitis carcinomatosa" .
This association might explain why approximately 75% of all patients with NAION discovered visual loss upon first awakening or when they first used vision critically after sleeping. ... They found that hypercholesterolemia (143890) was a risk factor in these patients and suggested that NAION might be the first manifestation of a previously unrecognized lipid disorder.
Clinical Features Lammer et al. (2001) reported a malformation pattern affecting 5 of 7 sibs born to unaffected first-cousin Afghan parents. Their first 2 children died during infancy of cyanotic congenital heart defects.
Insulin secretion, in response to a glucose challenge, occurs in 2 phases. The first phase, or acute insulin response (AIR), is characterized by rapid increase in plasma insulin levels over 3 to 5 minutes followed by a decline. ... This element may account for a maximum of 80% of the genetic variants in AIR. As a first step in the isolation of the gene responsible for the phenotypic variation in AIR, Thompson et al. (1997) constructed a YAC contig and physical map of the 1p31 region, which includes the leptin receptor locus (601007).
Cause [ edit ] Possibly Bartonella spp bactaraemia Diagnosis [ edit ] Classification [ edit ] Hemangioendotheliomas may be classified as: Epithelioid hemangioendothelioma is an uncommon vascular tumor of intermediate malignancy that was first described by Steven Billings, Andrew Folpe, and Sharon Weiss in 2003. [1] These tumors are so named because their histologic appearance resembles a proliferation of epithelioid cells, with polygonal shape and eosinophilic cytoplasm. Composite hemangioendothelioma is a low-grade angiosarcoma typically occurring in adults, although it has been described in infancy. [2] : 601 Spindle-cell hemangioendothelioma [3] ) is a vascular tumor that was first described in 1986 by Sharon Weiss, M.D. , [4] and commonly presents in a child or young adult who develops blue nodules of firm consistency on a distal extremity. [2] : 599 These tumors were reclassified by Dr. Weiss in 1996 as "spindle cell hemangioma", rather than hemangioendothelioma, due to the excellent prognosis observed in a group of 78 patients. [5] Retiform hemangioendothelioma (also known as a "Hobnail hemangioendothelioma" [3] ) is a low-grade angiosarcoma , first described in 1994, presenting as a slow-growing exophytic mass, dermal plaque, or subcutaneous nodule. [2] : 601 Kaposiform hemangioendothelioma (also known as "Infantile kaposiform hemangioendothelioma" [3] ) is an uncommon vascular tumor, first described by Niedt, Greco, et al. ... It is the third most common liver tumor in children, the most common benign vascular tumor of the liver in infancy, and the most common symptomatic liver tumor during the first 6 months of life. [14] These hemangioendotheliomas have 2 growth phases: an initial rapid growth phase, which is followed by a period of spontaneous involution (usually within the first 12 to 18 months of life). Detection of the hemangioendothelioma within the first 6 months of life is attributed to the initial rapid growth during this time; however, the tumor has been detected with fetal ultrasonography. [15] Histopathologically, there are 2 types of hepatic hemangioendotheliomas: Type I: Hemagioendotheliomas of this type have multiple vascular channels that are formed by an immature endothelial lining with stromal separation from bile ductules.
The term hemangioendothelioma describes several types of vascular neosplasms and includes both non-cancerous (benign) and cancerous (malignant) growths. The term has also been applied to those that show "borderline" behavior, intermediate between entirely benign hemangiomas and highly malignant angiosarcomas . Hemangioendotheliomas are caused by abnormal growth of blood vessel cells, although the exact underlying cause for the abnormal growth is unknown. They can also develop in an organ, such as the liver or lung. They usually grow slowly and can sometimes spread to other tissues in the body (metastasize). Examples of types of hemangioendotheliomas include spindle cell hemangioma; papillary intralymphatic (Dabska tumor); retiform; kaposiform; epithelioid; pseudomyogenic (epithelioid sarcoma-like hemangioendothelioma); and composite.
For example, mutations in the BRCA1 and BRCA2 genes are inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing cancer. ... In the other syndromes discussed above, the gene mutations that increase cancer risk also have an autosomal dominant pattern of inheritance. It is important to note that people inherit an increased likelihood of developing cancer, not the disease itself.
Learn more about the gene associated with Familial acute myeloid leukemia with mutated CEBPA CEBPA Inheritance Pattern Familial acute myeloid leukemia with mutated CEBPA is inherited in an autosomal dominant pattern . Autosomal dominant inheritance means that one copy of the altered CEBPA gene in each cell is sufficient to cause the disorder.
A group of rare acute leukemias of ambiguous lineage characterized by the presence of separate populations of blasts of more than one lineage (bilineal), a single population of blasts coexpressing antigens of more than one lineage (biphenotypic), or a combination thereof. The diagnosis relies on immunophenotyping, the T-cell component being characterized by strong expression of cytoplasmic CD3, usually in the absence of surface CD3, the B-cell component expressing CD19, almost always together with CD10, cCD79a, CD22, or PAX5, while the most specific hallmark of the myeloid component is the presence of myeloperoxidase in the blast cytoplasm.
Management and treatment For young patients, treatment consists of an induction cycle with cytarabine plus idarubicin or daunorubicin in a typical 3 + 7 schedule with the first objective to reach complete response (CR).
Core binding factor acute myeloid leukemia (CBF-AML) is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body from infection, red blood cells (erythrocytes) that carry oxygen, and platelets (thrombocytes) that are involved in blood clotting . In acute myeloid leukemia , the bone marrow makes large numbers of abnormal, immature white blood cells called myeloid blasts. Instead of developing into normal white blood cells, the myeloid blasts develop into cancerous leukemia cells. The large number of abnormal cells in the bone marrow interferes with the production of functional white blood cells, red blood cells, and platelets.
A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).
In general, treatment falls into two phases: Remission induction therapy. The purpose of the first phase of treatment is to kill the leukemia cells in your blood and bone marrow. ... People with AML generally stay in the hospital during chemotherapy treatments because the drugs destroy many normal blood cells in the process of killing leukemia cells. If the first cycle of chemotherapy doesn't cause remission, it can be repeated. ... Your doctor may ask: When did you first begin experiencing symptoms? Have your symptoms been continuous or occasional?
Inherited acute myeloid leukemia (AML) is a rare, malignant hematopologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis, etc.) and genetic defects predisposing to AML. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly, etc.). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.
Acute myeloid leukemia (AML) is a cancer that affects the blood and bone marrow . Conditions are generally called "acute" when they develop quickly and have an aggressive course. The signs and symptoms of AML vary but may include easy bruising; bone pain or tenderness; fatigue ; fever; frequent nosebleeds; bleeding from the gums; shortness of breath; and/or weightloss. AML is one of the most common types of leukemia among adults and is rarely diagnosed in people under age 40. There are many potential causes of AML such as certain blood disorders, inherited syndromes, environmental exposures, and drug exposures; however, most people who develop AML have no identifiable risk factor.
In these cases, the condition follows an autosomal dominant pattern of inheritance , which means that one copy of the altered CEBPA gene in each cell is sufficient to cause the disorder.
Clinical Features Al Gazali et al. (1996) reported a female infant, born of double first cousins of Pakistani origin, with large head, wide anterior fontanel, corneal clouding, atretic auditory canals, severe shortness of limbs, especially of the distal segments, and bilateral clubfoot. Skeletal survey showed sclerotic bones, occipital synchondrosis, multiple wormian bones, platyspondyly, mesomelic shortening of the limbs, and shortening of all phalanges and metacarpals, especially the first metacarpal. The infant died a few minutes after birth. ... Grigelioniene et al. (2011) described 2 unrelated patients with al Gazali-type lethal skeletal dysplasia. The first was a female infant, born to nonconsanguineous Swedish parents, who died at 20 minutes of age due to respiratory failure. ... All phalanges and metacarpals were extremely short and the first metacarpal was triangular. Grigelioniene et al. (2011) noted that the radiographic findings were similar to those of the original case reported by al Gazali et al. (1996).
The parents were normal and nonconsanguineous with an unremarkable family history. Their first child, a 4-year-old boy, was normal. ... Makhoul et al. (2007) described a male infant, born of nonconsanguineous parents, who had bilateral cleft palate and lip, mild microphthalmia with iris coloboma and glaucoma of the right eye, and blepharophimosis with severe microphthalmia of the left eye. Spine x-ray and MRI revealed first sacral hemivertebra with spina bifida, and agenesis of the second through fifth sacral vertebrae and coccyx, with caudal tethering of the spinal cord at L3, filum terminalis lipoma, and a syringomyelia. ... The consanguineous Turkish parents had a healthy 7-year-old daughter from their first pregnancy; a male infant from their second pregnancy had frontal bossing, bilateral anophthalmia, total agenesis of the upper lip, and rudimentary nostrils, and died at 9 weeks of age due to respiratory and cardiac failure. Ozalp et al. (2008) stated that this was the first report of adrenal hypoplasia in Fryns anophthalmia-plus syndrome.
A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.
Anophthalmia plus syndrome (APS) is a very rare syndrome that involves malformations in multiple organs of the body. The most common findings in affected individuals are anophthalmia (absence of one or both eyes) or severe microphthalmia (abnormally small eyes), and cleft lip and/or cleft palate . Other findings may include wide-set eyes (hypertelorism); low-set ears; narrowed or blocked nasal passages (choanal stenosis or atresia); sacral neural tube defect , midline abdominal wall defects , clinodactyly , eye colobomas and congenital glaucoma. It has been suggested that APS is inherited in an autosomal recessive manner, although the genetic cause has not yet been identified.
Clinical Features Peremans et al. (1966) described a sibship of 14 children, offspring of first cousins once removed, among whom 5 children showed progressive muscular hypotonia, lethargy, coma, and death in the first days of life. ... Wadlington and Riley (1973) described a family in which 5 male sibs died in the first 2 weeks of life after an illness characterized by jaundice and kernicterus. ... Suprun and Freundlich (1981) reported 3 affected sibs who died early, 2 of them in the first days of life and 1 at the age of 7 months, with heart failure.
Brain fag syndrome ( BFS ) describes a set of symptoms : somatic, sleep-related and cognitive complaints, difficulty in concentrating and retaining information, head and neck pains, and eye pain. [1] The condition was first described in Nigerian high school and university students in the 1960s. [1] [2] It is considered a culture-bound syndrome caused by excessive pressure to be successful among the young. [3] Contents 1 Classification 2 Causes 3 Treatment 4 Epidemiology 5 History 6 See also 7 References Classification [ edit ] BFS is classified in the fourth revision of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) as a culture-bound syndrome . [1] Individuals with symptoms of brain fag must be differentiated from those with the syndrome according to the Brain Fag Syndrome Scale (BFSS); [1] Ola et al said it would not be "surpris[ing] if BFS was called an equivalent of either depression or anxiety". [1] Causes [ edit ] Morakinyo found in 20 people with BFS an achievement drive that was anxiety -related that led to the use of psychostimulants and consequent sleep deprivation which contributed to cognitive disruption. [1] Omoluabi related BFS to test anxiety. [1] Treatment [ edit ] 19th-century American trade card, listing a cure for "brain fag" among other things Anumonye reported treatment success with lorazepam; others found benefit with antidepressants and relaxation exercises. [1] Epidemiology [ edit ] BFS has been reported in other African cultures, [1] and also in Brazil, Argentina, and Ethiopian Jews . [1] Historic higher reported prevalence among males may be due to more males being present in higher education in African countries. [1] Studies since the 1990s have not verified gender differences. [1] Other studies found a possible association with low socioeconomic status , an association with average or higher intelligence, and a high association with neuroticism . [1] Individuals with BFS have been found to have problems with isolation, poor study habits, and the use of psychostimulants as well as physical changes including in muscle tension and heart rate. [1] History [ edit ] The condition was first described by R. ... Prince who named the condition based on the term brain fag used by students who believed their symptoms were attributed to "brain fatigue". [1] However, this term was used in the United States and Europe dating back to 1839. [4] Furthermore, in a detailed historical account, Ayonrinde (2020) [5] illustrates that contrary to widely held and published belief in diagnostic manuals, psychiatric, social science and educational text, the term 'Brain Fag' and associated syndromes of anxiety, affective and somatoform symptoms in student and 'brain worker' populations were first described in nineteenth century Britain (Tunstall, 1850) with dissemination across the British Empire. Ayonrinde concludes that, the time has come for the decolonization of brain fag and its African syndromization in the true spirit of ethical scientific rigour in the twenty-first century. [5] See also [ edit ] Burnout Exhaustion References [ edit ] ^ a b c d e f g h i j k l m n o Ola BA, Morakinyo O, Adewuya AO (May 2009).
Clinical description The disorder was first reported in individuals with neurological problems and intellectual deficit. ... This enzyme has both lysine-ketoglutarate reductase (LKR) and saccharopine dehydrogenase (SDH) activity, and catalyses the first two steps of lysine degradation.
This article needs additional citations for verification . Please help improve this article by adding citations to reliable sources . Unsourced material may be challenged and removed. Find sources: "Hyperlysinemia" – news · newspapers · books · scholar · JSTOR ( July 2008 ) ( Learn how and when to remove this template message ) Hyperlysinemia Other names Lysine alpha-ketoglutarate reductase deficiency [1] lysine Specialty Endocrinology Hyperlysinemia is an autosomal recessive [2] metabolic disorder characterized by an abnormal increase of lysine in the blood , but appears to be benign. [3] It is caused by mutations in AASS , which encodes α-aminoadipic semialdehyde synthase . [2] [4] Hyperlysinemia is associated with ectopia lentis (a displacement or malposition of the eye's crystalline lens ) in humans. [5] [6] [7] Contents 1 Genetics 2 Diagnosis 3 Treatment 4 See also 5 References 6 External links Genetics [ edit ] Hyperlysinemia has an autosomal recessive pattern of inheritance Hyperlysinemia is inherited in an autosomal recessive manner. [2] This means the defective gene responsible for the disorder is located on an autosome , and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. Diagnosis [ edit ] Hyperlysinemia on GARD This section is empty. You can help by adding to it . ( January 2017 ) Treatment [ edit ] Genetic basis of hyperlysinemia-Orphanet Journal of Rare Diseases, on BMC, cited by Houten, S.M., te Brinke, H., Denis, S. et al. Genetic basis of hyperlysinemia. Orphanet J Rare Dis 8, 57 (2013). This section is empty.
Infants are very small at birth and quickly develop life-threatening complications. During the first days of life, infants will develop a buildup of lactic acid in the bloodstream ( lactic acidosis ) and amino acids in the urine ( aminoaciduria ). ... Although alkali therapy is used as treatment, about half of affected infants do not survive past the first days of life. Those that do survive this period generally do not live past 4 months despite receiving treatment.
Iron levels may begin to improve after birth, although they typically remain elevated. Within the first day of life, infants with GRACILE syndrome have a buildup of a chemical called lactic acid in the body (lactic acidosis). ... Cholestasis leads to irreversible liver disease (cirrhosis) in the first few months of life. Because of the severe health problems caused by GRACILE syndrome, infants with this condition do not survive for more than a few months, and about half die within a few days of birth.
These tests include enzyme assays , deletion/duplication analysis, targeted variant analysis, sequence analysis of select exons, and sequence analysis of the entire coding region. [3] Prognosis [ edit ] One Finnish study which followed 25 cases from 18 families found that half the infants died within 3 days of birth and the other half died before 4 months of age. [2] Through cases like this, it has been determined that majority of the newborns with GRACILE syndrome will die within the first few months and the rest will die within a few days. [5] Terminology [ edit ] Fellman syndrome Finnish lactic acidosis with hepatic hemosiderosis Finnish lethal neonatal metabolic syndrome [5] References [ edit ] ^ "Orphanet: GRACILE%20syndrome" . www.orpha.net . ^ a b Visapää I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L (October 2002).
The newborn infant is small for gestational age (birth weight approximately 1,700 g) and develops fulminant lactic acidosis (median pH 7.02, lactate 12.8 mmol/l) during the first day of life. In metabolic screening, marked aminoaciduria is found due to renal proximal tubulopathy of Fanconi type. ... Prognosis The prognosis is life threatening with half of infants decease during the first days of life and the other half not living past 4 months of age, mainly because of energy depletion.
Clinical Features Fellman et al. (1998) described a neonatal metabolic disorder characterized by severe intrauterine growth retardation, fulminant lactic acidosis during the first days of life, Fanconi-type amino aciduria, and abnormalities in iron metabolism, including liver hemosiderosis.
Among the 9 children of parents related as first cousins once removed, Hamanishi et al. (1986) found 3 (a female and 2 males) with a curious combination of manifestations: congenital unilateral flexion deformities of the thumb and some fingers, and 'polyneuropathic electrophysiologic findings' in all 4 limbs. ... It was noted in the case of the oldest that 'sensory disturbance was first noticed in the right hand when she was 11 years old.'
Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.
The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness.
The phenotype was characterized by these groups as showing autosomal dominant inheritance and low levels of VWF antigen in the presence of high molecular weight and ultra high molecular weight multimers, so-called 'supranormal' multimers, similar to those seen in normal plasma after infusion of desmopressin. ... Inheritance Mannucci (2004) stated that type 1 VWD is typically transmitted as an autosomal dominant trait. Cumming et al. (2006) concluded that type 1 VWD is best considered a complex multifactorial disorder, with interrelating genetic and environmental components. ... The mutation was unusual in that the truncated VWF protein produced had a dominant-negative effect on expression of the second allele. ... The affected mice showed prolonged bleeding time, normal VWF multimer distribution, autosomal dominant inheritance, and proportionately decreased plasma VWF antigen, ristocetin cofactor, and factor VIII activities. ... They designated this locus Mvwf for 'modifier of VWF.' A single dominant gene accounting for the low VWF phenotype of the original strain studied (RIIIS/J) was demonstrated in crosses with several other strains.
Genetic counseling Type 1 VWD is transmitted in an autosomal dominant manner. Genetic counseling should be proposed to inform patients about the severity of the disease and the associated risks (some patients may be carriers for the most severe form type 3), and to allow screening for detection of other affected family members.
Most cases of type 1 and type 2 von Willebrand disease are inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Juvenile idiopathic arthritis refers to a group of conditions involving joint inflammation (arthritis ) that first appears before the age of 16. This condition is an autoimmune disorder, which means that the immune system malfunctions and attacks the body's organs and tissues, in this case the joints. ... Oligoarticular juvenile idiopathic arthritis (also known as oligoarthritis) is marked by the occurrence of arthritis in four or fewer joints in the first 6 months of the disease. It is divided into two subtypes depending on the course of disease. ... Rheumatoid factor positive polyarticular juvenile idiopathic arthritis (also known as polyarthritis, rheumatoid factor positive) causes inflammation in five or more joints within the first 6 months of the disease. Individuals with this condition also have a positive blood test for proteins called rheumatoid factors. ... Rheumatoid factor negative polyarticular juvenile idiopathic arthritis (also known as polyarthritis, rheumatoid factor negative) is also characterized by arthritis in five or more joints within the first 6 months of the disease. Individuals with this type, however, test negative for rheumatoid factor in the blood. ... Some affected individuals develop psoriasis before arthritis while others first develop arthritis. Other features of psoriatic arthritis include abnormalities of the fingers and nails or eye problems.
Clinical Features Pseudodiastrophic dysplasia was first described in 2 infant sisters by Burgio et al. (1974). ... Both sisters died suddenly of unexplained hyperthermia, the first at age 8 months and the second at 4 days. ... The hands are quite different with characteristic multiple interphalangeal and metacarpophalangeal joint dislocations with normal appearance of the first metacarpal in pseudodiastrophic dysplasia, and 'hitchhiker thumb' (abduction of the hypermobile and proximally inserted thumb) in diastrophic dysplasia. Cystic swelling of the pinnae appearing between the first day and the twelfth week of life in diastrophic dysplasia was never seen in pseudodiastrophic dysplasia. ... INHERITANCE - Autosomal recessive GROWTH Height - Short stature, short-limbed Other - Failure to thrive HEAD & NECK Head - Brachycephaly Face - Round, chubby face - Frontal bossing - Midface hypoplasia - Micrognathia - Smooth philtrum Ears - Abnormal folding of superior helix - Abnormal folding of antitragus Eyes - Blue sclerae Nose - Anteverted nostrils Neck - Short neck - Pterygium colli CHEST External Features - Small asymmetric chest Ribs Sternum Clavicles & Scapulae - Flared ribs, anteriorly SKELETAL Skull - Enlarged bitemporal diameter Spine - Odontoid hypoplasia - Platyspondyly - Tongue-like lumbar vertebral deformities - Scoliosis - C1-C2 dislocation - Marked lumbar lordosis Limbs - Rhizomelic short limbs - Elbow dislocations Hands - Interphalangeal joint dislocations - Ulnar deviation of fingers - Camptodactyly, bilateral - Metacarpophalangeal joint dislocations with normal first metacarpal Feet - Clubfoot SKIN, NAILS, & HAIR Nails - Hypoplastic thumb nail METABOLIC FEATURES - Hyperthermia IMMUNOLOGY - Recurrent infections MISCELLANEOUS - Cartilage shows irregular myxoid degeneration with small cystic areas - Many patients die in neonatal period ▲ Close
Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia (see this term) on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.
