Congenital anomalies of the lower urinary tract (CALUT) are a family of birth defects of the
ureter, the bladder, and the urethra. CALUT includes ureteral anomaliesc such as congenital …

Long‐term observations of individuals with the so‐called Langer–Giedion (LGS) or tricho–
rhino‐phalangeal type II (TRPS2) are scarce. We report here a on follow‐up of four LGS …

A patient with the diagnosis of Langer‐Giedion syndrome (tricho‐rhino‐phalangeal
syndrome type II) and interstitial 8q deletion was also noted to have persistent cloaca and …

Langer-Giedion syndrome (MIM 150230) is a rare contiguous gene syndrome that was first
described as a trichorhinophalangeal syn-drome with multiple exostoses by Giedion" and …

Trichorhinophalangeal syndrome is an autosomal dominant disorder characterized by a
number of clinical features including short stature, sparse scalp hair, a pear-shaped bulbous …

DEAR EDITOR, Trichorhinophalangeal syndrome type II (TRPS II, OMIM 150230), also
known as Langer–Giedion syndrome, is a contiguous gene deletion syndrome. 1 …

Two forms of Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome are recognized: isolated
uterovaginal agenesis and associated with extragenital malformations, including several …

We report a 4.5 year old Egyptian male child, fourth in the order of birth of healthy remote
consanguineous parents. He has typical facial as well as skeletal features of …

Author contribution: Batyrova ZK, Bolshakova AS—concept; Batyrova ZK, Kruglyak DA,
Uvarova EV, Chuprynin VD, Mamedova FSh—collection and processing of material; …