title: Omodysplasia: an affected mother and son.
abstract: 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.
authors.affiliation: Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
authors.forename: Charles P
authors.initials: CP
authors.lastname: Venditti
authors.forename: Jennifer
authors.initials: J
authors.lastname: Farmer
authors.forename: Karen L
authors.initials: KL
authors.lastname: Russell
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Friedrich
authors.forename: Craig
authors.initials: C
authors.lastname: Alter
authors.forename: Douglas
authors.initials: D
authors.lastname: Canning
authors.forename: Linton
authors.initials: L
authors.lastname: Whitaker
authors.forename: Michael T
authors.initials: MT
authors.lastname: Mennuti
authors.forename: Deborah A
authors.initials: DA
authors.lastname: Driscoll
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
mesh_terms: 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