China 
Africa 
Explore chapters and articles related to this topic
Case 94
Published in Simon Lloyd, Manohar Bance, Jayesh Doshi, ENT Medicine and Surgery, 2018
Simon Lloyd, Manohar Bance, Jayesh Doshi
Microgenia (round face), epicanthal folds, Brushfield spots (white spots on iris), upslanting palpebral fissures, shorter limbs, a single transverse palmar crease, poor muscle tone, learning disabilities (IQ variable 20–85), joint laxity, atlanto-axial instability, cardiac abnormalities (atrioventricular septal defects 40%).
Novel de novo interstitial deletion in 2q36.1q36.3 causes syndromic hearing loss and further delineation of the 2q36 deletion syndrome
Published in Acta Oto-Laryngologica, 2019
Jing Guan, Linwei Yin, Hongyang Wang, Guohui Chen, Cui Zhao, Dayong Wang, Qiu-Ju Wang
The proband (III-1, Figure 1) was a 6-year-old Chinese boy born from non-consanguineous parents, aged 35 and 33 years for the father and the mother, respectively. Prenatal development was detected for fetal growth restriction at 33 gestational weeks. The boy was born at 40 weeks of gestation by normal delivery with a birth weight of 2100 g (−3.5 SD) and a birth length of 46 cm (−2.6 SD). Apgar was 5–8. Congenital ocular hypertelorism, right accessory auricle, and single transverse palmar crease were recognized at birth. Conventional karyotyping revealed a karyotype of 46, XY. Postnatally, newborn hearing screening failed. At one year of age, an auditory brainstem responses, distortion product evoked otoacoustic emissions, 40Hz AERP and ASSR tests confirmed bilateral profound sensorineural hearing loss. Temporal bone Computed Tomography (CT) scans and internal auditory canal MRI were normal. The patient received the right cochlear implantation with COCHLARE implant. At 3 years of age, he was noted with intellectual disability and short stature. Now aged 6, the proband’s height is 113cm (−1 SD), father’s height is 180 cm and mother’s height is 162 cm. The proband’s hands and feet were relatively small and slightly ulnar deviation of the hands but no abnormalities (Figure 1(E,F)). His facial features included a flat facial profile, depressed nasal bridge, small downturned corners of the mouth and several decayed teeth (Figure 1(I)). There were no white forelocks, no heterochromia of the irides and no evidence of any skin depigmentation or no cardiac and renal malformations or vertebral anomalies. The patient boy is speech development delayed and unable to attend primary normal school.