The Aarskog syndrome in three brothers

Abstract

A sibship is reported of three brothers who all manifested short stature and identical facial, digital, and genital anomalies consistent with Aarskog's syndrome. In addition, all manifested ophthalmoplegia and growth delay of prenatal onset, features uncommon among patients previously reported with this syndrome. The mother had some of the digital anomalies seen in her three boys, but otherwise was unaffected. The pattern of inheritance seen in our family and in those previously reported indicates that the syndrome is either X‐linked recessive or autosomal dominant, with limited expression in the female.

Ruptured Posterior Communicating Artery Aneurysm Associated with Aarskog Syndrome

“…14) This gene encodes a guanine nucleotide exchange factor for guanosine triphosphate (GTP)-binding proteins which are involved in cytoskeletal organization, skeletal formation, and morphogenesis. 15) More than 15 mutations of FGD1 gene have been reported in AS. 16,17) However in a Chinese family with several members having manifestations of AS and different limb anomalies with additional characteristics, FGD1 gene sequencing and linkage analysis failed to identify an FGD1 mutation suggesting a second locus for this condition.…”

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).…”

Aarskog syndrome: New oral‐facial findings

“…It is apparent from the variable findings enumerated in previously reported cases of the Aarskog syndrome (Funderburk & Crandell 1974) that this syndrome and the Turner-like (Noonan) syndrome can be confused. We suspect that more than one case of the Noonan syndrome that does not include true webbing of the neck, low hair line and cardiac lesions, in fact represents a variant of the Aarskog syndrome, If the findings in a given patient include some of the more unusual and/or consistent findings of the Aarskog syndrome, such as short nose with anteverted nostrils, long philtrum, ophthalmoplegia and scrota1 folds encircling the penis ventrally, one can be comfortable with this diagnosis.…”

“…The Aarskog syndrome is characterized by short stature with peculiar facies, "saddle bag" scrotum, cryptorchidism and abnormalities of the hands and feet. Including the report by Aarskog (1970), 22 cases have been reported (Hanley et al 1967, Scott 1971, Furukawa et al 1972, Sugarman et al 1973, Funderburk & Crandell 1974. In only one of these previous reports (Funderburk & Crandell 1974) has ophthalmoplegia been well documented.…”

“…Including the report by Aarskog (1970), 22 cases have been reported (Hanley et al 1967, Scott 1971, Furukawa et al 1972, Sugarman et al 1973, Funderburk & Crandell 1974. In only one of these previous reports (Funderburk & Crandell 1974) has ophthalmoplegia been well documented. We present a further case of Aarskog (facial-digital-genital) syndrome with VI cranial nerve paralysis and three previously unreported findings: a hypoplastic type enamel dysplasia, a "col" deformity of the anterior mandible and a paresis of the facial muscles innervated by the VII cranial nerve.…”