Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence.
Geleophysic dysplasia is characterized by short stature with short limbs and brachydactyly, a "happy" facial appearance, and joint contractures. Infiltration of heart valves and liver with a mucopolysaccharide-like substance has been demonstrated in some patients. A metabolic pathogenesis is suspected, but has not yet been identified. We report on 3 boys with the condition, 2 of whom are brothers. Serial ultrasound scans were performed on 2 of the cases during pregnancy, but short limbs did not become obvious until after 28 weeks of gestation, making it an uninformative procedure for prenatal diagnosis.
Rosser
E M
EM
Department of Clinical Genetics, Churchill Hospital, Oxford, United Kingdom.
Wilkinson
A R
AR
Hurst
J A
JA
McGaughran
J M
JM
Donnai
D
D
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics; D003286:Contracture / Q000151:congenital / Q000000981:diagnostic imaging* / Q000196:embryology; D004392:Dwarfism / Q000196:embryology / Q000235:genetics*; D005121:Extremities / Q000000981:diagnostic imaging* / Q000196:embryology; D019066:Facies; D005260:Female; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging* / Q000196:embryology; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D011247:Pregnancy; D016216:Ultrasonography, Prenatal