Lupine Publishers | Surgery & Case Studies: Open Access Journal
Abstract
Townes Brocks syndrome is a very rare genetic syndrome with 129
well-documented patients reported in the medical literature. Townes Brocks
syndrome has not been reported before in Iraq. The main aim of this book is to
describe the first case of this syndrome in Iraq which seems to be the case
number 130.
Introduction
Townes Brocks syndrome is a rare autosomal dominant hereditary disorder
which was probably first described in 1972 by Dr Philip L. Townes and Dr Eric
Brocks. Dr Philip was professor of pediatrics at the University of Rochester,
and Eric Brocks was a medical student. The syndrome is characterized by a triad
of imperforate anus, limb defects, and ear abnormalities [1,2].
Main features of the disorder include [1,2]:
a. Anorectal malformations including imperforate anus (absence of an
anal opening), recto-vaginal fistula, anal stenosis, unusually placed anus.
b. Hand and foot abnormalities including hypoplastic thumbs,
fingerlike thumbs, syndactyly (webbed fingers/toes), fusion of the wrist bones,
overlapping foot and/or toe bones.
c. Abnormalities of the ears with sensori-neural or conductive
hearing impairment or loss or deafness.
d. Other organ abnormalities including hypoplastic kidneys,
multi-cystic kidneys, dysplastic kidneys, and congenital heart defects such as
tetralogy of Fallot and defects of the ventricular septum.
The main aim of this book is to describe the first case of this syndrome in
Iraq which seems to be the case number 130.
Case report
Figure 1: The girl had low set ears and deformity of the right foot
with the presence of only three toes. There was no obvious abnormality of left
foot, but the big toe was relatively large.
R.J was first seen at about the age of four months during November 2018
because of poor feeding, failure to thrive, poor response to sounds, and poor
head control. The girl also had low set ears, and deformity of the right foot
with the presence of only three toes. There was no obvious abnormality of left
foot, but the big toe was relatively large (Figure1). She was delivered at 38
weeks by cesarean section. She didn’t pass motion and was found to have
imperforated anus. She had colostomy, and the surgeon reported that the sigmoid
was not present. The five-centimeter colon ended at the pelvis, and cecum found
on the left side. Cloaca treated with diversion colostomy. The parents were
relatives and have three normal children. Echocardiography performed during the
first month showed normal findings. Brain ultrasound performed on the fifth of
August 2018 showed normal findings. Abdominal ultrasound was also performed on
the fifth of August 2018 and showed small hypoplastic right kidney (18 x 12 mm)
with normal shape. At the age of forty-six days (16, August 2018), a second
abdominal ultrasound showed small hypoplastic right kidney. The left kidney had
normal size.
Discussion
Authors from Germany, the Netherlands, the UK,
the USA, Belgium, Italy , Switzerland and the Czech republic (Jürgen Kohlhase
et al ,1998; Jürgen Kohlhase et al ,1999) defined Townes Brocks syndrome as a
rare autosomal dominant malformation syndrome with a combination of anal,
renal, limb and ear anomalies. Townes Brocks syndrome is a very rare genetic
syndrome with 129 welldocumented patients reported in the medical literature
[1,2]. In this paper the first case of this syndrome in Iraq is reported which
is the case number 130.
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