A very rare syndrome characterized by craniofacial and
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.
Robinow Syndrome: An 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 characteristic of the facial features. It is believed to be
an autosomal dominant inheritance; however, some individuals present with an
autosomal recessive mode of inheritance.
Aarskog Syndrome: A 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.
Teebi AS, Qumsiyeh MB, Meyers-Seifer CH, et al: Velo-facial-skeletal
syndrome in a mother and daughter. Am J Med Genet