A pointed frontal hairline, popularly referred to as widow's peak, may be inherited as an autosomal dominant (194000). Kapur et al. (1989) described it as a feature of a syndrome consisting also of facial and skeletal anomalies. The ... A pointed frontal hairline, popularly referred to as widow's peak, may be inherited as an autosomal dominant (194000). Kapur et al. (1989) described it as a feature of a syndrome consisting also of facial and skeletal anomalies. The proband was seen at the age of 18 days for surgical treatment of congenital megacolon. He had a prominent widow's peak and bilateral ptosis. A 20-year-old maternal male cousin had bilateral ptosis and striking widow's peak. Recurrent dislocation of the patella was found in several members of the family. An extensive pedigree suggested X-linked dominant inheritance: 6 affected males had 16 daughters; available information on 15 of the daughters indicated that each had a widow's peak that was much less prominent than that in affected males. Pain in the knee joint was reported by 11 of the 15. Patients often reported the 'knee giving way' or 'kneecap problems.' Inability to touch the ipsilateral shoulder with the hand was a frequent finding. Radiologic changes at many sites suggested that there was epiphyseal dysplasia. Four affected males had 8 sons; none of the sons showed any manifestation of the condition. The proband had low-set and posteriorly rotated ears. LaDine et al. (2001) suggested that the patient they described had the same condition as that reported by Kapur et al. (1989). Postnatal onset of short stature, widow's peak, ptosis, posteriorly angulated ears, and limitation of forearm supination was reported in the boy and his mother. The boy had not yet experienced dislocation of patella or other joint anomalies except for limitation of supination of the forearms. On the other hand, the mother had a milder limitation of supination only on the left arm and had no ptosis.
By DNA studies using an intragenic polymorphism of the FGD1 gene (300546), which is mutant in Aarskog syndrome (305400), and 4 other adjacent markers, LaDine et al. (2001) convincingly excluded FGD1 as the site of the mutation in ... By DNA studies using an intragenic polymorphism of the FGD1 gene (300546), which is mutant in Aarskog syndrome (305400), and 4 other adjacent markers, LaDine et al. (2001) convincingly excluded FGD1 as the site of the mutation in the family they reported.