Mesomelic shortness of stature with severe skeletal
changes in the vertebrae, ankles, knees, and elbows. Present agenesis of the
palate, broad nose, and small mouth.
First described in 1995 as a newly autosomal dominant
inherited form of mesomelic shortness of stature by A Verloes and A David.
Autosomal dominant; two families
Mesomelic short stature, shorts limbs with severe
skeletal changes in the ankles, knees, and elbows, progressive curvature of
the forearm, microretrognathia, beaked nose, transverse agenesis of soft
palate, nasal speech, down-slanting of palpebral fissures with hypertelorism
and ptosis. Hydronephrosis and mild vertebral anomalies. At birth, is
associated with short umbilical cord having unusually long skin coverage.
Vertebral anomalies can lead to
difficulties in locoregional anesthesia. Renal function should be assessed
with the association of hydronephrosis. Difficulty with the upper airways is
anticipated given the retromicrognathia and agenesis of the soft palate.
Kantaputra-Gorlin Syndrome: Characterized by bilateral,
symmetrical marked shortening of the ulna and shortening and bowing of the
radius. Synostoses between the tibia and fibula are present
because of an unusually short proximal fibula. The most characteristic
feature is the presence of a prominent calcaneus on the ventral surface of
the distal fibula. Carpal and tarsal synostoses are present. The average
height of affected male adults was 152 cm. This medical entity is very
similar to the mesomelia-synostosis syndrome.
Verloes A, David A: Dominant mesomelic shortness of stature with acral
synostoses, umbilical anomalies, and soft palate agenesis. Am J Med Genet