Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation.
The previously unreported combination of bilateral absence of thumbs, aplasia of ulna at one and hypoplasia of ulna on the other side, retarded bone age, short stature, microcephaly, micropenis, cryptorchidism, and mental retardation is described in a 5-year-old boy. Having excluded major differential diagnoses, e.g. Fanconi anemia, RAPADILINO syndrome and VACTERL association, we hypothesize that this boy represents a new multiple congenital anomaly/mental retardation (MCA/MR) syndrome.
Wieczorek
Dagmar
D
Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany. dagmar.wieczorek@uni-essen.de
Köster
Bernhard
B
Gillessen-Kaesbach
Gabriele
G
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001842:Bone and Bones / Q000002:abnormalities*; D002675:Child, Preschool; D020732:Cytogenetic Analysis; D005837:Genitalia, Male / Q000002:abnormalities; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D008297:Male; D011884:Radius / Q000002:abnormalities; D013933:Thumb / Q000002:abnormalities*; D014457:Ulna / Q000002:abnormalities