CWM Au, S Ho, HM Luk

Case

An 11-month-old boy was referred to our unit for failure to thrive and bilateral hearing loss. Antenatally the pregnancy was largely uneventful apart from intra-uterine growth restriction. He was born at 37 weeks of gestation to non-consanguineous Chinese parents, with a birth weight of 2.28 kg. He failed newborn hearing screening for both ears, while newborn exam showed a right preauricular tag only. Otherwise there were no other significant medical issues in the neonatal period. His body length was less than 3% all along in infancy. Subsequent assessment revealed that he has bilateral moderate hearing impairment necessitating hearing aids, and he also has global developmental delay and hypotonia. His mother had surgical removal for multiple preauricular polyps performed in childhood. She was also noted to have short stature (body height 141 cm) with borderline intelligence.

The initial thyroid function test showed a mild elevation in thyroid-stimulating hormone, which later normalised. Other investigations including TORCH screening, baseline electrocardiogram, ultrasound of the urinary system and spine were unremarkable.

Physical examination of the proband during initial assessment at our unit showed that all growth parameters were below the 3rd centile. He was noted to subtle dysmorphic features including triangular face, prominent ears, anteverted nostrils and brachydactyly (Figure 1). Examination of mother showed she has short stature, and macrodontia was noted for her central incisors (Figure 2).

Figure 1 Clinical photo of proband taken at 11 months of age showing the presence of triangular face, prominent ears, anteverted nostrils, right preauricular tag and brachydactyly. (With consent for publication for both proband and mother).

Figure 2 Clinical photo of proband's mother demonstrating macrodontia in females and mild flaring of eyebrows. (With consent for publication for both proband and mother).