Omodysplasia: an affected mother and son.
We describe a second family with mother to son transmission of omodysplasia, a rare skeletal dysplasia characterized by shortened humeri, shortened first metacarpals and craniofacial dysmorphism. The mother in this family had been diagnosed previously with Robinow syndrome; subsequently, her diagnosis was reclassified. Her pregnancy was closely monitored antenatally with serial ultrasound examinations. Delayed ossification of the humerus was noted prenatally. Her son had ambiguous genitalia and similar skeletal manifestations as his mother. A comparison to other known and suspected cases of dominant omodysplasia is presented. Our observations confirm the existence of a dominant variant of omodysplasia, document genital hypoplasia as an important feature of this syndrome in males and highlight the need to differentiate this entity from Robinow syndrome.
Venditti
Charles P
CP
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Farmer
Jennifer
J
Russell
Karen L
KL
Friedrich
Christopher A
CA
Alter
Craig
C
Canning
Douglas
D
Whitaker
Linton
L
Mennuti
Michael T
MT
Driscoll
Deborah A
DA
Zackai
Elaine H
EH
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D000328:Adult; D004392:Dwarfism / Q000235:genetics / Q000473:pathology; D005145:Face / Q000002:abnormalities; D005260:Female; D005269:Femur / Q000002:abnormalities / Q000000981:diagnostic imaging; D006130:Growth Disorders / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D006801:Humans; D006811:Humerus / Q000002:abnormalities / Q000000981:diagnostic imaging; D007231:Infant, Newborn; D008297:Male; D009035:Mothers; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D011247:Pregnancy; D011859:Radiography; D016216:Ultrasonography, Prenatal