Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia.
We present a child with an MCA pattern of sclerocornea, hypertelorism, pterygium colli, upper limb syndactyly, ambiguous genitalia, abnormal ears and nose, umbilical hernia, congenital heart disease, and normal chromosomes (46,XX). Although the defects observed in this case follow the diagnostic criteria for Fraser syndrome proposed by Thomas et al. [1986: Am J Med Genet 25:85-98], we think that this is a different entity.
Martínez-Frías
M L
ML
ECEMC Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Bermejo
E
E
Sánchez Otero
T
T
Urioste
M
M
Morena
V
V
Cruz
E
E
D000015:Abnormalities, Multiple / Q000208:ethnology / Q000473:pathology*; D005124:Eye Abnormalities; D005260:Female; D005808:Genes, Recessive; D005836:Genitalia, Female / Q000002:abnormalities*; D006801:Humans; D006972:Hypertelorism; D007231:Infant, Newborn; D008297:Male; D006178:Romani People; D013030:Spain; D013576:Syndactyly; D013577:Syndrome