A baby girl was born, on the 35th week of gestation via cesarean section, to an 18-year old mother. Apgar score at the 1st and 5th minute was 8 and 9, respectively. Antenatal scan at 20th gestational week found microcephaly, edema in both lower extremities and the dilation of the proximal intestinal loops. No pathology was found on FISH examination in relation to chromosome 13, 18, 21, X and Y ...

Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, incl...

Most pedigrees of Aarskog's faciodigitogenital syndrome have suggested X linked inheritance. However, sex influenced autosomal dominant inheritance is also a possibility in some families. We describe an Arab family of normal consanguineous parents with five children (three males and two females) with some features of Aarskog syndrome in addition to some unusual hair changes. The possibility tha...