Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings.
We report on sibling fetuses with orofaciodigital syndrome (OFDS) type IV (Mohr-Majewski syndrome). The 1st was a 13-week-old fetus with hypertelorism; a median cleft defect of the upper lip, soft palate, and uvula; a polypoid lower lip and multiple frenula of the tongue adherent to the mandible; a congenital heart defect; pre- and postaxial polydactyly of the upper and preaxial polydactyly of the lower limbs; and an intersex genitalia. However, the shortening of both arms and forearms was particularly striking, with shortening of the ulna and ulnar deviation of both hands. The 2nd fetus was of the same parents, was 11 weeks old, and presented with a similar spectrum of malformations. The features of both fetuses showed a transitional phenotype between the OFDS type II (Mohr syndrome) and the short rib-polydactyly syndrome type II (Majewski syndrome), thus extending the known spectrum of the OFDS type IV.
Kahl
Philip
P
Department of Pathology, University of Bonn Medical School, Sigmund Freud Strasse 25, 53127 Bonn, Germany. philip.kahl@ukb.uni-bonn.de
Heukamp
Lukas Carl
LC
Buettner
Reinhard
R
Friedrichs
Nicolaus
N
Roesing
Bettina
B
Knopfle
Gisela
G
D000028:Abortion, Induced; D001344:Autopsy; D005190:Family; D005260:Female; D005333:Fetus; D006801:Humans; D008297:Male; D009958:Orofaciodigital Syndromes / Q000145:classification / Q000000981:diagnostic imaging / Q000196:embryology* / Q000473:pathology*; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D011859:Radiography; D035781:Siblings; D014457:Ulna / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000196:embryology / Q000473:pathology