Confirmation of microcephaly-facio-cardio-skeletal Hadziselimovic type syndrome.
Three patients are reported, including two dizygotic twins born to consanguineous parents, presenting with a disorder characterized by growth retardation, microcephaly, distinct facial features with hypotelorism, with or without epicanthic folds, prominent lips, low set ears, tetralogy of Fallot in two cases, short first metacarpals and thumbs, and hypoplastic radius and ulna in one patient. These features overlap those previously reported in two male siblings and suggest that this association of microcephaly-facio-cardio-skeletal defects could represent a unique autosomal or X-linked recessive disorder.
Dallapiccola
Bruno
B
Istituto CSS-Mendel, Roma and Ospedale Casa Sollievo della Sofferenza, IRCCS, San Giovanni Rotondo Ospedale Bambino Gesù, IRCCS, Roma Ospedale Elena d'Aosta, Napoli, Italy.
Digilio
Maria Cristina
MC
Zatterale
Adriana
A
Galeone
Rita
R
Capolino
Rossella
R
Mingarelli
Rita
R
D000015:Abnormalities, Multiple; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D006330:Heart Defects, Congenital; D006801:Humans; D008297:Male; D008831:Microcephaly; D013577:Syndrome