[source]
pmid = PMID:30509212
title = Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report
[diagnosis]
disease_id = OMIM:300867
disease_label = Kabuki syndrome 2
[text]
A 2 months and 13 days old male was hospitalized in the neonatology department of our hospital for postnatal growth retardation
on 20 February, 2017. The infant was spontaneous breech delivery at the 36th week plus 1 day of gestation with a
weight of 2.8 kg and head circumference of 31 cm. The Apgar scores of the infant all were 8 at 1, 5, and 10 min.
The infant was the third child of a 29-year-old mother who had fewer dysmorphic features and had two unaffected older sisters.
Before the infant was born, magnetic resonance imaging (MRI) results showed that enlarged lateral ventricles (Fig. 1),
this indicated congenital hydrocephalus.
After admission to our hospital, physical examination showed that the patient’s growth and development level was of
below the normal range 3rd centiles at height (~52 cm), weight (~2.9 kg) and head circumference (~33.5 cm) in accordance
with the new WHO (2006) Child growth standards [13], suggesting postnatal onset of growth retardation.
The patient had an inability to lift the head and weak crying. The patient couldn’t amuse by physician, and couldn’t accomplish
the tests of audio and visual tracking. However, The patient presented with recognizable facial features,
including sparse eyebrows (Fig. 2a), a depressed nasal tip (Fig. 2b), long palpebral fissures with eversion of
the lateral part of the lower eyelid (Fig. 2c), large prominent ears with low set ears (Fig. 2d), micrognathia (Fig. 2e),
gingival thickening and a high palate with cleft (Fig. 2f). In addition, head computed tomography (CT) scan revealed
hydrocephalus (Fig. 3), ultrasonography showed developmental dysplasia of hip (Fig. 4).
The results of cardiopulmonary and hepatolienal examination were normal. The patient had hypotonia, no pathological reflex.
Liver and kidney functions, thyroid function, blood counts, electrolytes were normal.