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Alternative titles; symbolsMICROCEPHALY-FACIOCARDIOSKELETAL SYNDROME▼ Clinical FeaturesHadziselimovic et al. (2001) reported 2 brothers from a northern Italian f...

Alternative titles; symbols


▼ Clinical Features
Hadziselimovic et al. (2001) reported 2 brothers from a northern Italian family with microcephaly, severe developmental delay, and short stature. Dysmorphic facial features included prominent nasal bridge, hypotelorism, epicanthic folds, convergent strabismus, carp-shaped mouth, and low-set ears. There was asymmetric shortening of either the radius or the tibia/fibula, shortening of the first metacarpals, hypoplastic thumbs, and dorsally flexed fingers and toes, all of which were unusually long. Both boys had a high-pitched voice and were unable to communicate verbally at the age of 4.5 years. One boy had anal atresia and renal hypoplasia; the other had pulmonary artery atresia, ventricular septal defect, atrial septal defect, and an overriding aorta.

Dallapiccola et al. (2009) reported 2 dizygotic twin brothers, born of consanguineous parents from Libya, with short stature, microcephaly, and delayed development similar to the patients reported by Hadziselimovic et al. (2001). Other features included hypotonia, low anterior hairline, hypotelorism, flat nasal bridge, thick lips with carp-shaped mouth, low-set dysmorphic ears, and hypoplastic first fingers. One had complex congenital heart malformations, with tetralogy of Fallot, ventricular septal defect, right ventricular hypertrophy, and subpulmonary obstruction. MRI showed hypoplastic corpus callosum and cerebellum. A third unrelated boy from southern Italy showed similar dysmorphic features and had tetralogy of Fallot. Radiographs showed asymmetric skeletal defects, including shortening of the radius and hypoplastic wrist bones and first metacarpals.

▼ Inheritance
Recurrence of this condition in 2 sib pairs, including a family with consanguinity, suggested autosomal recessive inheritance. However, since all affected individuals are male, an X-linked recessive condition cannot be ruled out (Dallapiccola et al., 2009).

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