A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome.
We describe two sibs born to a consanguineous couple. Among other clinical findings both have mental retardation, short stature, facial and skeletal abnormalities characterized by hypertelorism, broad notched nasal tip, cleft lip/palate, campto-brachy-poly-syndactyly, fibular hypoplasia, and marked anomalies of foot structures. Facial signs of the reported patients resemble those present in the fronto-nasal "dysplasia" syndrome; however, the whole clinical picture in the present patients suggests a true MCA/MR syndrome, most likely inherited as an autosomal recessive trait. Clinical and genetic aspects of the present family are discussed.
Richieri-Costa
A
A
Colletto
G M
GM
Gollop
T R
TR
Masiero
D
D
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D003241:Consanguinity; D003878:Dermatoglyphics; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009666:Nose / Q000002:abnormalities; D010009:Osteochondrodysplasias / Q000235:genetics*; D012886:Skull / Q000002:abnormalities; D013576:Syndactyly / Q000235:genetics