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.
Department of Clinical Genetics, Churchill Hospital, Oxford, United Kingdom.
E M
EM
Rosser
A R
AR
Wilkinson
J A
JA
Hurst
J M
JM
McGaughran
D
D
Donnai
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