Aarskog syndrome: New oral‐facial findings

Abstract

The Aarskog syndrome is characterized by short stature with typical facial, digital and genital anomalies. A further case is reported which presented with the uncommon finding of ophthalmoplegia and three previously unreported oral-facial findings: enamel dysplasia, a "col" deformity of the anterior mandible and a paresis of the facial muscles innervated by the VII cranial nerve. The implications of genetic heterogeneity in this nosologic classification are discussed.

Secondary Dentition Characteristics in Children With Nonsyndromic Unilateral Cleft Lip and Palate

“…Since the development of orofacial clefting has been highly associated with genetic factors, it has been suggested that a substantial genetic component may produce an underlying disturbance in a number of body tissues including the dental lamina, resulting in the frequent occurrence of dental anomalies and several other visceral and skeletal anomalies in CLP children (Kitamura and Kraus, 1964; Melnick and Shields, 1982; Eerens et al, 2001).…”

Anomalous cerebral venous drainage in Aarskog syndrome

“…Inguinal hernias and cryptorchidism are invariably present. Various vertebral malformations (Scott 1971, Sugarman et al 1973, ophthalmoplegia (Funderburk & Crandall 1974, Melnick & Shields 1976, mild mental retardation (Sugarman et al 1973, Melnick & Schields 1976, Duncan et al 1977, Fryns et al 1978, cleft palate (Marcel et al 1977, Hoo 1979, familial craniosynostosis (Kunze & Spranger 1973) have been reported. At least one other Aarskog syndrome patient with a scalp defect has been reported up to the present (Fryns et al 1978).…”

The Aarskog (facio‐digito‐genital) Syndrome

“…The pedigree of that Norwegian family suggested an X-linked recessive mode of inheritance. Subsequently Scott (1971), Furukawa et al (1972), Sugarman et al (1973), Funderburk & CrandaIl (1974), Welch (1974), Berman et al (1975), Melnick & Shields (1976) and Fryns et al (1978) reported further kindreds with similar full clinical features affecting only the male members. This distinct clinical entity is now known as the Aarskog Syndrome or the Facio-digito-genital Syndrome.…”