[source]
pmid = PMID:29333303
title = Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features
[diagnosis]
disease_id = OMIM:269150
disease_label = Schinzel-Giedion midface retraction syndrome
[text]
The proposita was born at 39 1/7 weeks of gestation by spontaneous vaginal delivery after an uneventful pregnancy.
The infant was an appropriate size for her gestational age, with a birth weight of 3,020 g.
The parents were nonconsanguineous. Antenatal ultrasonography revealed bilateral pelvic dilatation and polyhydramnios.
At birth, the patient had coarse facial features with midface retraction, frontal bossing, bitemporal narrowing, wide anterior fontanel,
hypertrichosis over the forehead, low nasal bridge, ocular hypertelorism, low set ears, abdominal distention, and bilateral talipes equinovarus (Figure 1).
Radiological examination showed bowed long bones and broad ribs (Figure 2). Echocardiogram revealed patent ductus arteriosus and patent foramen ovale.
Abdominal ultrasound showed severe hydronephrosis on the right, moderate hydronephrosis on the left, and diastasis recti.
Optic fundus examination and auditory brainstem response testing were normal. Cerebral magnetic resonance imaging (MRI)
showed moderate dilatation of the third and lateral ventricles, 2-3 mm choroidal cysts with grossly normal cerebral structures.
Bilateral megacalycosis with nonobstructive dilatation was seen on abdominal MRI (Figure 3). Screening tests for inborn metabolism
errors were negative. Complete blood count and renal function tests were normal. On follow-up examination at 8 months of age,
the patient had severe growth retardation, developmental delays, feeding problems, and seizures, which were partially controlled with
antiepileptic drugs. She had severe visual impairment with absence of fixation and no reaction to bright light.
An auditory evoked response test was repeated and showed severe deafness. She died at 11 months of age from respiratory failure.