Acrofrontofacionasal Dysostosis 2

Clinical Features

Richieri-Costa et al. (1989) reported an apparently distinct MCA syndrome in a 6-month-old boy, born of first-cousin parents, who presented with an extraordinary picture of microbrachycephaly, wide forehead, marked hypertelorism, broad nose with midline groove with a bilateral small blind dimple in each side, hypospadias, syndactyly between fingers 3 and 4, broad thumbs, and broad halluces. G-banded chromosomes were normal. An identically affected sister died at age 15 days of respiratory distress. Richieri-Costa et al. (1989) contended that the disorder in these patients differed from the disorder in the patients described by Richieri-Costa et al. (1985); see 201180.

Teebi (1992) suggested that the disorder described by Richieri-Costa et al. (1989) is the same as the disorder described by Naguib (1988) in a Kuwaiti female and her 2 brothers, the offspring of first-cousin parents. The features included hypertelorism, polysyndactyly, and hypospadias. Teebi (1992) referred to the condition as the Naguib-Richieri-Costa syndrome.

Chaabouni et al. (2008) reported a 22-day-old Tunisian boy, born of first-cousin parents, with acrofrontofacionasal dysostosis associated with genitourinary anomalies. The boy presented with wide forehead with frontal encephalocele, wide anterior fontanel, marked hypertelorism, coloboma of the upper lids, proptosis, congenital glaucoma, broad nose, syndactyly between fingers 3 and 4, hypoplastic 3rd, 4th, and 5th toes with nail dysplasia, hypospadias, and bifid scrotum.

Inheritance

Normal chromosomes, parental consanguinity, and affected sibs suggests autosomal recessive inheritance of this disorder (Richieri-Costa et al., 1989).