A very rare syndrome characterized by craniofacial and skeletal anomalies.
Clinical evocation on short stature associated with facial skeletal anomalies and hypernasality. There is no 22q11 microdeletion. There is no mental retardation. Clinical features involve orofacial structures (epicanthal folds, hypertelorism, posteriorly angulated ears, narrow and high-arched palate, broad and high nasal bridge) and skeleton (delayed bone age, mesomelic brachymelia, short broad hands, short stubby thumbs, prominent finger pads, small feet, hyperextensible hand joints).
Careful intraoperative positioning is necessary. Limb anomalies can create difficulties with noninvasive blood pressure measurement, venous access, and regional anesthesia. Direct laryngoscopy and tracheal intubation can be difficult.
Other conditions to be considered
☞Robinow Syndrome: Extremely rare inherited disorder characterized by mild to moderate short stature due to postnatal growth retardation. Distinctive craniofacial abnormalities associated with skeletal malformations and genital anomalies complete the clinical presentation. The facial features of infants with this disorder resemble those of an 8-week-old fetus. The presence of macrocephaly, frontal bossing, severe ocular hypertelorism, anteverted nostril, and depressed nasal bridge are characteristics of the facial features. It is believed to be an autosomal dominant inheritance; however, some individuals present with an autosomal recessive mode of inheritance. Very similar to Aarskog Syndrome.
☞Aarskog Syndrome: Rare inherited disorder combining facial, skeletal, and genital abnormalities. The clinical features include a disproportionate short stature, broad facial features, short broad hands and feet, an abnormal fold of skin extending around the base of the penis (“shawl” scrotum), and spinal malformations. Mild mental retardation may occur but is not considered a consistent feature of Aarskog Syndrome. It is inherited as an X-linked recessive trait.
et al: Velo-facial-skeletal syndrome in a mother and daughter. Am J Med Genet