JYY Poon, HM Luk, IFM Lo

A female baby was delivered at 39 weeks of gestation by spontaneous vaginal delivery with birth weight of 3.01 kg. Her antenatal course was uneventful with normal morphology ultrasound scan. Her parents were non-consanguineous and she was the first born of the family.

At birth, she was noted to have a large central cleft palate, skin erosions over her limbs, hyperpigmentation at groin and axillary region and other dysmorphic features, including bilateral low-set ears, midface hypoplasia and syndactyly involving the left fourth and fifth toes. She also had bilateral ankyloblepharon filiforme adnatum, a congenital anomaly due to persistent fetal fusion of the upper and lower eyelid margin, with operation done on the eighth day of life. Her nails were normal at birth but became dystrophic at three months of age. She also had hypohidrosis and skin hypopigmentation over her neck, hands and ankles. Her hair was sparse and brittle. She also had hypodontia and widely spaced teeth (Figure 1). Surgery was performed at 12 months of age for repair of her central cleft palate. Other complications during infancy included recurrent dacryocystitis and chronic serous otitis media requiring multiple operations from 10 to 12 months of age.

Regarding her development, she had speech delay and disarticulation requiring speech training. She has significant velopharyngeal insufficiency with hypernasality and pharyngoplasty was performed at age four. She had bilateral conductive hearing loss but did not require the use of hearing aids. She is currently studying in mainstream school with fair academic performance.

Family history enquiry revealed that her father also had ectodermal dysplasia and cleft palate with operation done. He has alopecia, hypodontia and right conductive hearing loss.

Figure 1 (a) Clinical photos of our proband showing skin erosions over her limb with hypopigmentation and scarring. (b) Surgical scar over right eye from lysis of the ankyloblepharon performed on the eighth day of life. (c) Nail hypoplasia and dystrophy with frayed distal edges. (d) Poor dental hygiene, hypodontia with widely spaced teeth. (e) Our proband at 8-month-old. (f) Our proband at 5-year-old. (g) Our proband at 8-year-old showing facial dysmorphism including sparse eyebrows, ptosis, downward slanting palpebral fissures, bilateral low-set ears, narrow nose, broad nasal bridge, hypoplastic alae nasi, macrognathia, short philtrum, also with fair coloured, sparse and wiry hair.