The authors stated that this was the fifteenth reported case of BAMS, and the first reported Mexican case. Brasseur et al. (2016) studied a man in his forties who was born with arhinia, choanal atresia, bilateral microphthalmia with coloboma, and hypogonadotropic hypogonadism. ... Of 31 assessable subjects (22 male and 9 female), 97% demonstrated hypogonadotropic hypogonadism (HH), and the 7 subjects for whom brain MRI data were available had no olfactory structures. Molecular Genetics By whole-genome, whole-exome, and targeted sequencing in 38 probands with arhinia, Shaw et al. (2017) identified heterozygous missense mutations in the SMCHD1 gene in 32 (84%) of the probands, including patients previously reported by Gifford et al. (1972), Ruprecht and Majewski (1978), Bosma et al. (1981), Muhlbauer et al. (1993), Thiele et al. (1996), Olsen et al. (2001), Graham and Lee (2006), Tryggestad et al. (2013), Becerra-Solano et al. (2016), and Brasseur et al. (2016) (see, e.g., 614982.0007-614982.0015). ... Simultaneously and independently, Gordon et al. (2017) performed whole-exome sequencing and/or Sanger sequencing in 14 probands with arhinia, 6 of whom were also studied by Shaw et al. (2017). ... Exclusion Studies In a sporadic female patient with arhinia, bilateral microphthalmia, and iris coloboma, in whom Hou (2004) had detected a de novo chromosomal translocation, t(3;12)(q13.2;p11.2), Sato et al. (2007) performed BAC-based FISH and whole-genome array CGH and identified an approximately 19-Mb deletion spanning 3q11.2 to 3q13.21, but found no disruption of any genes at the 12p11 breakpoint. ... In a man with BAMS, Brasseur et al. (2016) sequenced 8 candidate genes but did not find a causative mutation; array CGH showed no copy number variation, and whole-exome sequencing of the patient and his parents did not reveal a causative variant.

ADRS is inherited in an autosomal dominant manner. A proband may have the disorder as a result of either an inherited or de novo pathogenic variant. ... A mother and son, both affected with WNT5A -associated autosomal dominant Robinow syndrome A. Affected mother in infancy Figure 2. A boy with WNT5A -associated autosomal dominant Robinow syndrome at different ages. ... Family History Family history is consistent with autosomal dominant inheritance. Note: Absence of a known family history of autosomal dominant Robinow syndrome does not preclude the diagnosis. ... Distinct features include normal stature, rhizomelic upper-limb shortening, shortened first metacarpals, and shortened humeri with hypoplastic condyles.

In about half of the 65 reported cases to date, there is cerebral involvement including mental retardation, microcephaly, and histologic anomalies. Both autosomal dominant and autosomal recessive forms of the disorder have been described (Zeevaert et al., 2009). ... In the family reported by McNicholl et al. (1970), the normal father and mother were 40 and 33, respectively, at the birth of the first affected child. The condition has also been designated 'rib gap defects with micrognathia' (Miller et al., 1972). ... Deficiency in the posterior portion of affected ribs by roentgenography is a sine qua non for diagnosis. Leroy et al. (1981) provided the first evidence of dominant inheritance; a mother and her son and daughter (by different fathers) were affected. ... The pregnancies were terminated at 19 and 12 weeks' gestation, respectively. At autopsy, the first fetus showed severe micrognathia, a U-shaped defect of the soft palate, marked postnuchal edema, absent olfactory bulbs, and cribriform plate and rib abnormalities. ... James and Aftimos (2003) reviewed 28 cases of familial CCMS and determined that families suggestive of autosomal recessive and autosomal dominant inheritance are not distinguishable on the basis of clinical manifestations.

Clinical Features Liu et al. (2018) reported 4 affected individuals from 2 unrelated families with congenital cardiac defects, skeletal abnormalities, facial dysmorphisms, variable developmental delay, and endocrine system disorders. In the first family, a mother, son, and daughter were affected. ... He had no immune-related symptoms, but did not undergo immune function testing. Molecular Genetics By whole-genome sequencing in a family with vertebral anomalies and variable endocrine and T-cell dysfunction, Liu et al. (2018) identified heterozygosity for a missense mutation in the TBX2 gene (R20Q; 600747.0001) in the affected mother and 2 children, but not in the unaffected father. In an unrelated boy with VETD, they identified heterozygosity for a de novo missense mutation in TBX2 (R305H; 600747.0002). INHERITANCE - Autosomal dominant GROWTH Height - Short stature HEAD & NECK Head - Brachycephaly Face - Triangular face - Low anterior hairline - Glabellar hemangioma Ears - Low-set ears - Cupped ears - Overfolded helices Eyes - Hypertelorism - Epicanthal folds - Corectopia Nose - Depressed nasal bridge - Depressed nasal tip - Broad nasal tip Mouth - Cleft palate - High-arched narrow palate - Cleft lip Neck - Short neck - Webbed neck CARDIOVASCULAR Heart - Double-outlet right ventricle - Pulmonary valve stenosis - Atrial septal defect Vascular - Patent ductus arteriosus CHEST Ribs Sternum Clavicles & Scapulae - Sprengel deformity - Fusion of 4th and 5th ribs SKELETAL Spine - Klippel-Feil anomaly (fusion C2-C4) - Congenital fusions of thoracic spine - Open laminae posteriorly - Hemivertebrae at T10-T11 - Scoliosis - Kyphosis Hands - Camptodactyly 3rd and 4th digits NEUROLOGIC Central Nervous System - Developmental delay, mild - Attention-deficit hyperactivity disorder (ADHD) Behavioral Psychiatric Manifestations - Autistic behaviors ENDOCRINE FEATURES - Hashimoto thyroiditis - Hypoparathyroidism - Borderline low parathyroid hormone (PTH) - Growth hormone deficiency IMMUNOLOGY - Thymus aplasia or hypoplasia - Low or no functional T cells - Abnormal B cells - Very low naive T cells (CD4 and CD8) MISCELLANEOUS - Variable features may be present MOLECULAR BASIS - Caused by mutation in the T-box 2 gene (TBX2, 600747.0001 ) ▲ Close

Affected individuals usually have normal hair at birth, but the hair abnormalities develop within the first few months of life. In mild cases of monilethrix, only hair on the back of the head (occiput) or nape of the neck is affected. In more severe cases, hair over the whole scalp can be affected, as well as pubic hair, underarm hair, eyebrows, eyelashes, or hair on the arms and legs. ... When the condition is caused by a mutation in one of the keratin genes, it is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Clinical Features Weaver et al. (2015) studied 3 patients with acrofacial dysostosis, which they designated 'Cincinnati type.' The first patient was a 3-year-old Caucasian boy with multiple prenatally identified craniofacial anomalies, including severe micrognathia requiring tracheostomy at birth. ... Molecular Genetics In a 3-year-old boy with severe acrofacial dysostosis, who was negative for mutation in the Treacher Collins syndrome (154500)-associated gene TCOF1 (606847), Weaver et al. (2015) performed whole-exome sequencing and identified heterozygosity for a de novo missense mutation in the POLR1A gene (E593Q; 616404.0001). ... Noting the disparate phenotypes of the 3 affected individuals, Weaver et al. (2015) suggested that the variable severity might correlate with the location or type of mutation or be caused by as yet unidentified genetic modifiers. INHERITANCE - Autosomal dominant GROWTH Height - Short stature (in some patients) Weight - Low weight (in some patients) HEAD & NECK Head - Microcephaly Face - Midface hypoplasia, mild to severe - Micro/retrognathia, mild to severe - Hypoplastic zygomatic arches - Hypoplastic maxilla - Hypoplastic mandible - Absent mandibular rami Ears - Large ears - Microtia - Anotia with severe conductive hearing loss Eyes - Downslanting palpebral fissures - Eyelid clefts, upper and/or lower - Inferiorly displaced orbits (in some patients) Nose - Choanal atresia Mouth - Cleft palate CARDIOVASCULAR Vascular - Patent ductus arteriosus SKELETAL Skull - Microcephaly Pelvis - Dysplastic acetabulae Limbs - Bowed femurs - Flared metaphyses of lower extremities - Delayed ossification of epiphyses Hands - Short broad fingers Feet - Short broad toes MISCELLANEOUS - Extreme variability in severity of features - Three patients have been reported (last curated July 2015) MOLECULAR BASIS - Caused by mutation in the RNA polymerase I, subunit-A gene (POLR1A, 616404.0001 ) ▲ Close

Heterozygous mutation in the SPTBN2 gene causes autosomal dominant spinocerebellar ataxia-5 (SCA5; 600224). ... She did not have nystagmus, extrapyramidal signs, or bulbar symptoms. Her brother and a first cousin had a similar phenotype. ... The unaffected parents were heterozygous for the mutation, indicating that haploinsufficiency is not likely to cause the phenotype. Whole-genome sequencing did not identify any other possible pathogenic mutations that could contribute to the phenotype.

Description Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, 136760), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet. Clinical Features A dominant form of frontonasal dysplasia with associated spinal anomalies was suggested by Reich et al. (1977). ... One child had a family history of AFND with vertical transmission from father to son suggesting autosomal dominant inheritance, with variable expressivity and reduced penetrance. ... Kocak and Ceylaner (2009) reported a 3-generation Turkish family segregating autosomal dominant frontonasal dysplasia with additional features. ... Limb defects in the proband included clubbed thumbs, bilateral talipes equinovarus, overriding toes, bilateral clubbed and thickened nails of halluces, and vertical creases on the plantar surface between the first and second toes. Brain MRI showed ventricular dilation and an encephalomalacic region in the left hemisphere. ... Molecular Genetics Smith et al. (2014) performed whole-exome sequencing in 3 unrelated patients with acromelic frontonasal dysostosis and identified the same de novo missense mutation in the ZSWIM6 gene (R1163W; 615951.0001) in all 3 patients.

He had multiple skeletal abnormalities, including advanced bone age, flexion disorder of the metacarpophalangeal joints of the first and fifth fingers, and wide metaphyses of the femoral and tibial bones. ... Molecular Genetics In a 27-year-old man, born of unrelated Turkish parents, with COGIS, Cohen et al. (2015) identified a de novo heterozygous missense mutation in the EED gene (R302S; 605984.0001). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. ... In a 16-year-old girl, born of unrelated Hispanic parents, with COGIS, Cooney et al. (2017) identified a heterozygous missense mutation in the EED gene (R302G; 605984.0003). The mutation, which was found by whole-exome sequencing, was not present in the mother; the father was unavailable for testing. ... In a 5-year-old Japanese boy with COGIS, Imagawa et al. (2017) identified a de novo heterozygous missense mutation in the EED gene (R236T; 605984.0004). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. In vitro functional expression studies showed that the R236T and R302S mutant proteins were associated with decreased levels of H3K27me3 compared to wildtype, and Western blot analysis of patient cells with the R236T mutation also showed loss of H3K27me3, consistent with loss of PRC2 activity and a loss of function. INHERITANCE - Autosomal dominant GROWTH Height - Increased birth length - Tall stature Weight - Increased birth weight - Increased weight Other - Excessive postnatal growth HEAD & NECK Head - Macrocephaly Face - Round face - Broad forehead - Short forehead - Retrognathia - Crease between the mouth and the chin Ears - Large ears - Long ears - Low-set ears Eyes - Hypertelorism - Downslanting palpebral fissures - Almond-shaped eyes - Ptosis - Epicanthal folds - Cataracts - Myopia Nose - Wide nasal bridge - Depressed nasal bridge CARDIOVASCULAR Heart - Patent ductus arteriosus (in some patients) - Septal defect (in some patients) CHEST Ribs Sternum Clavicles & Scapulae - Flaring of the clavicles ABDOMEN External Features - Umbilical hernia SKELETAL - Advanced bone age - Joint contractures - Chondromalacia - Osteopenia Spine - Cervical spine stenosis - Scoliosis Pelvis - Flattened acetabulum and femoral head - Small iliac wings Limbs - Flared metaphyses - Subluxation of the patellae - Coxa valga Hands - Large hands - Long hands - Long fingers - Broad thumbs - Camptodactyly - Joint laxity of the small joints of the hand Feet - Large feet - Pes planovalgus SKIN, NAILS, & HAIR Skin - Pigmented nevi Nails - Small nails - Thin nails MUSCLE, SOFT TISSUES - Hypotonia NEUROLOGIC Central Nervous System - Delayed psychomotor development - Intellectual disability - Delayed speech - Abnormal gait - Poor coordination MISCELLANEOUS - Onset at birth - Variable phenotype - De novo mutation MOLECULAR BASIS - Caused by mutation in the homolog of the mouse embryonic ectoderm development protein gene (EED, 605984.0001 ) ▲ Close

Description Spinocerebellar ataxia-43 is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). ... Inheritance The transmission pattern of SCA43 in the family reported by Depondt et al. (2016) was consistent with autosomal dominant inheritance. Molecular Genetics In 7 affected members of a large Belgian family with SCA43, Depondt et al. (2016) identified a heterozygous missense mutation in the MME gene (C143Y; 120520.0006). The mutation, which was found by a combination of linkage analysis and whole-exome sequencing, was confirmed by Sanger sequencing. ... Sequencing of the MME gene in 96 additional patients with dominant ataxia did not identify any more mutations.

A number sign (#) is used with this entry because of evidence that autosomal dominant mental retardation-22 (MRD22) is caused by heterozygous mutation in the ZBTB18 gene (608433) on chromosome 1q44. ... Whereas sequencing of AKT3 in a panel of 45 patients with agenesis of the corpus callosum did not demonstrate any pathogenic variations, whole-mount in situ hybridization confirmed expression of AKT3 in the developing central nervous system during mouse embryogenesis. ... Molecular Genetics In a girl with autosomal dominant mental retardation-22, de Munnik et al. (2014) identified a de novo heterozygous nonsense mutation in the ZBTB18 gene (E133X; 608433.0001). ... There were 2 missense and 3 truncating mutations. The mutations were found by whole-exome sequencing among several research centers. ... Three of the variants were identified using whole-genome sequencing and the fourth was identified through the GeneMatcher exchange.

Mental retardation and minor facial anomalies have been noted in some patients. Autosomal dominant inheritance has been documented in many families (Pai and Macpherson, 1988). ... It seems that they are indistinguishable (except quantitatively in terms of severity of renal disease) from the inherited cases and may represent new dominant mutations. Gluck and Miller (1972) reported a family with males affected with osteolysis in 3 successive generations. ... The second patient of Pai and Macpherson (1988) was an 11-year-old black boy referred for the management of end-stage renal disease. Proteinuria had first been detected during a preschool examination at age 5. ... Inheritance Male-to-male transmission in several cases of osteolysis of carpal bones with nephropathy (e.g., Caffey, 1961, Whyte et al., 1978, Fryns, 1982) confirmed autosomal dominant inheritance. Molecular Genetics In 5 probands with multicentric carpotarsal osteolysis, Zankl et al. (2012) performed whole-exome sequencing followed by quality filtering and identified heterozygosity for missense mutations in the MAFB gene (see, e.g., 608968.0001-608968.0003 and 608968.0005) in all 5 patients. Analysis of MAFB in an additional 6 unrelated simplex cases revealed heterozygosity for missense mutations in all of them (see, e.g., 608968.0003 and 608968.0004). In 2 families with autosomal dominant inheritance of MCTO, Zankl et al. (2012) identified heterozygosity for another missense mutation that segregated with disease in both families (608968.0006).

Contents 1 Early use 2 Experimental research 3 Causes 4 Value 5 Cases 5.1 Nietzsche 5.2 Byron 5.3 Barrie 5.4 Keller 5.5 Stevenson 5.6 Jerusalem of Gold 5.7 Tyler 5.8 Harrison 5.9 McCullough 5.10 Eco 6 See also 7 References 8 External links Early use [ edit ] Cryptomnesia was first documented in 1874, involving the medium Stainton Moses . [2] [3] The word was first used by the psychiatrist Théodore Flournoy , [4] in reference to the case of medium Hélène Smith (Catherine-Élise Müller) to suggest the high incidence in psychism of "latent memories on the part of the medium that come out, sometimes greatly disfigured by a subliminal work of imagination or reasoning, as so often happens in our ordinary dreams." ... The distinction between these two types of plagiarism is in the underlying memory bias responsible—specifically, is it the thought that is forgotten, or the thinker? The first type of bias is one of familiarity. ... Perhaps a fresh idea has occurred to him, or a different image, or a whole new sub-plot. If you ask him what prompted the digression, he will not be able to tell you. ... I chanced to pick up the Tales of a Traveller some years ago with a view to an anthology of prose narrative, and the book flew up and struck me: Billy Bones, his chest, the company in the parlour, the whole inner spirit, and a good deal of the material detail of my first chapters—all were there, all were the property of Washington Irving. ... McHugh Eleanor Maguire George Armitage Miller Brenda Milner Lynn Nadel Dominic O'Brien Ben Pridmore Henry L. Roediger III Steven Rose Cosmos Rossellius Daniel Schacter Richard Shiffrin Arthur P.

The growth effect may be manifested in only one bone (mainly the femur or tibia) or, in some cases, affect the whole limb. The LLD may become apparent during infancy, childhood or adolescence and is clearly visible by comparison of the level of the gluteal and posterior knee folds. ... Diagnostic methods Diagnosis is made by clinical examination with a combination of plain X-ray studies (preferably in the standing position to identify the LLD and any changes in bone structure), and various techniques for detecting and establishing the site of the AVM: duplex scan, angiography (although it may fail to demonstrate intraosseous fistulas), angioscintigraphy (whole blood pool scan), a labeled microspheres test, direct percutaneous puncture of abnormal bone areas with contrast injection, and angio-MRI, -CT and -3D CT scans. ... Genetic counseling Although Angioosteohypertrophic syndrome generally appears to be sporadic, autosomal dominant inheritance has been noted in a few families.

ANKRD11 is one of the most frequently muted gene in patients with neurodevelopmental disorders diagnosed by whole exome sequencing. Clinical description BG syndrome (KBGS) manifests in childhood with global developmental delay with short stature, mild-to-moderate intellectual disability, characteristic facies, macrodontia of the permanent upper central incisors and skeletal anomalies. ... The diagnosis is established by cytogenetic and molecular studies including a-CGH (array-comparative genome hybridization), targeted sequencing, gene panel, whole exome or genome sequencing. Differential diagnosis Differential diagnosis includes Cornelia de Lange syndrome, cleidocranial dysplasia, Robinow syndrome and 22q11.2 deletion syndrome. Genetic counseling The pattern of inheritance is autosomal dominant. Most cases occur sporadically due to de novo mutations.

Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders. Page 588. ISBN 0-7216-2921-0 . ^ a b Habif, Thomas P. Clinical Dermatology: A Color Guide to Diagnosis and Therapy. Mosby, Inc. 2004. Page 825. ISBN 0-323-01319-8 . ^ Goldberg, LH; Ar, Altman (1985). ... Manual of Skin Diseases. Lippincott . 1985. Page 315. ISBN 0-397-50668-6 . ^ Kuo, HW; Yang, CH. (2003). ... Fitzpatrick's Color Atlas and Synopsis of Clinical Dermatology. The McGraw-Hill Companies. 2005. Page 192. ISBN 0-07-144019-4 . ^ Bekhor, Philip (11 Sep 2006).

The c.2854delC mutation was found in case 1 by whole-exome sequencing. The c.2934delG mutation was initially found in case 2 by DaRe et al. (2013) by sequencing of a panel of genes involved in mitochondrial function. ... Functional studies of the variant and studies of patient cells were not performed, but the mutations were predicted to result in a dominant-negative effect on the kinesin complex, thus disrupting organelle transport in neurons. ... In a male infant with NEIMY, Rydzanicz et al. (2017) identified a de novo heterozygous stop-loss mutation in the KIF5A gene (602821.0013). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. ... Rydzanicz et al. (2017) speculated that the mutation induced abnormal binding to TRAK2 (607334) or other kinesin adaptor proteins. INHERITANCE - Autosomal dominant HEAD & NECK Head - Microcephaly Eyes - Nystagmus - Ptosis - Optic nerve pallor - Abnormal saccades - Cortical visual impairment - Lack of visual fixation RESPIRATORY - Apnea, intermittent ABDOMEN Gastrointestinal - Dysphagia - Poor feeding MUSCLE, SOFT TISSUES - Hypotonia - Myopathic features seen on biopsy - Type 1 fiber atrophy - Mitochondrial complex IV deficiency, mild - Neuropathic features with reinnervation potentials seen on EMG NEUROLOGIC Central Nervous System - Myoclonus, intractable - Clonic seizures - Developmental arrest - Athetoid movements - Choreiform movements - T2-weighted signal abnormalities in the brainstem and pons - Leukoencephalopathy, progressive - Delayed myelination MISCELLANEOUS - Onset at birth - Three unrelated patients have been reported (last curated December 2016) - Two patients died in infancy MOLECULAR BASIS - Caused by mutation in the kinesin family member 5A gene (KIF5A, 602821.0011 ) ▲ Close

BPES is usually inherited in an autosomal dominant manner; autosomal recessive inheritance has been reported in one consanguineous family. For autosomal dominant inheritance: Each child of an individual with BPES has a 50% chance of inheriting the FOXL2 pathogenic variant. ... Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. ... De Baere et al [2003], Beysen et al [2008a], Beysen et al [2009] 5. Testing that identifies exon or whole-gene deletions/duplications not detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA. ... Multiplex ligation-dependent probe amplification (MPLA) detected partial- or whole-gene deletions in approximately 10% of individuals with typical BPES [Beysen et al 2005, Beysen et al 2009]. 7.

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Inheritance The transmission pattern of SCA40 in the family reported by Tsoi et al. (2014) was consistent with autosomal dominant inheritance. Molecular Genetics In affected members of a family from Hong Kong, China, with SCA40, Tsoi et al. (2014) identified a heterozygous missense mutation in the CCDC88C gene (R464H; 611204.0004). The mutation was found by a combination of linkage analysis and whole-exome sequencing. Functional studies showed that mutant CCDC88C activated JNK (601158) and triggered apoptosis, consistent with a gain of function. INHERITANCE - Autosomal dominant HEAD & NECK Eyes - Ocular dysmetria - Vertical gaze impairment NEUROLOGIC Central Nervous System - Spinocerebellar ataxia - Unsteady gait - Wide-based gait - Dysarthria - Intention tremor - Dysdiadochokinesis - Pontocerebellar atrophy - Spastic paraparesis Peripheral Nervous System - Hyperreflexia MISCELLANEOUS - Adult onset (mid-forties) - Slowly progressive - Wheelchair-bound after 2 decades of disease onset - One family from Hong Kong has been reported (last curated October 2014) MOLECULAR BASIS - Caused by mutation in the coiled-coil domain-containing protein 88C gene (CCDC88C, 611204.0004 ) ▲ Close