Ruvalcaba et al. (1971) described 2 brothers, born to unrelated parents,
who showed mental retardation, short stature, microcephaly, peculiar
facies with hooked nose and small mouth, narrow thoracic cage with
pectus carinatum, hypoplastic genitalia, hypoplastic 'onion skin'
cutaneous lesions, and skeletal deformities including short metatarsals
and metacarpals and epiphysitis of the spine. Because 2 female maternal
cousins showed some of the same features, X-linked semi-dominant
inheritance was considered. One of the girls seems to have been fully
affected, however. She died at age 17 years with congenital
hydrocephalus and the Dandy-Walker anomaly.
Geormaneanu et al. (1978) reported a 7-year-old boy and his father with
the syndrome and a possibly coincidental t(13q;14q) translocation.
Bianchi et al. (1984) described a single case in an Italian male.
Under the designation of Ruvalcaba syndrome, Sugio and Kajii (1984)
described a kindred with 9 affected persons in 4 generations. They
showed postnatal growth retardation, oval face with high forehead,
antimongoloid slant of palpebral fissures (the kindred was Japanese),
small, beaked nose with hypoplastic nasal alae, small downturned mouth
with thin vermilion borders, pointed chin, and short digits. This
kindred differed from that reported by Ruvalcaba et al. (1971) in the
lack of mental retardation. Hunter (1985) disagreed with the diagnosis
of Sugio and Kajii (1984) and considered the disorder to be different
from Ruvalcaba syndrome. He pointed to the absence of mental retardation
and microcephaly and the presence of sparse hair, beaked nose, long
, and severe degree of metacarpal phalangeal shortness. Niikawa
and Kamei (1986) proposed that this is a separate entity which should be
called trichorhinophalangeal syndrome, type III (TRPS3; 190351).
Adachi et al. (2010) reported a Japanese girl with clinical
manifestations identical to those reported by Ruvalcaba et al. (1971).
Born of unrelated parents, she presented at age 6 months with failure to
thrive, multiple congenital anomalies, and developmental delay. She had
HEAD AND NECK:
Downslanting palpebral fissures;
Central tapetoretinal dystrophy;
Hypoplastic alae nasi;
[External genitalia, male];
[Internal genitalia, male];
Limitation of elbow extension;
[Central nervous system];