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American Family Physician, Feb 15, 2000 by Donna K. Daily, Holly H. Ardinger, Grace E. Holmes
Illustrative Case
A 16-month-old boy was referred for developmental assessment because he was not yet talking.
He was born to a 30-year-old woman, gravida 2, para 2, living children 2. He was delivered at term by cesarean section with no prenatal, labor or postnatal complications. He was slightly blue at birth and required oxygen. Mother and infant went home in two days, and no other newborn problems were noted. Birth weight was 3.2 kg (7 lb, 1 oz). The infant was breast-fed for about 12 months. Solid foods were added at 10 months, but some difficulty was noted with chewing. The boy rolled over at three to four months, sat without support at seven months and crawled at seven to eight months. He began to walk at 16 months but still did not talk. The mother first became concerned about lack of speech when the child was 13 months old. The remainder of the medical history, the review of systems and the family history were noncontributory.
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At 16 months, the child's height and weight were less than the 5th percentile; head circumference was at the 25th percentile. The child was pleasant, alert, active and cooperative. No vocalization of any kind was noted during the examination. Physical findings included a slightly prominent forehead with a depressed wide nasal bridge and a flat nose. The midface appeared depressed; the child's face closely resembled his mother's. The only other abnormal finding was a small left testis. The boy could stand for a few seconds without support and was able to take a few steps. His muscle tone was mildly low but within the reference range.
The physician's impressions included the following: midface hypoplasia, small stature, rule out hearing loss, speech and language delays and global developmental delay, hypoplastic left testicle, incoordinated swallowing, rule out genetic syndrome related to hypoplastic facial features, developmental delay, small stature and familial resemblance.
In the pediatric genetics dysmorphology clinic, the above dysmorphic features were confirmed. He also had distinctive blepharophimosis, ptosis, epicanthal folds, altered palmar creases and hyperextensibility of the fingers and knees. Ohdo blepharophimosis syndrome was diagnosed, based on a London Dysmorphology Database search. Chromosomal status was 46,XY.
At 17 months' chronologic age, his developmental quotient was 61, with most delay occurring in speech, which was at the five-month level. Motor skills were at the 11- to 12-month level. He was evaluated by subspecialists who addressed his various problems. Initial hearing assessment revealed moderate hearing loss. The child was referred to an early intervention program.
Subsequent follow-up at 52 months of age revealed that the boy still had difficulty with feedings and was not yet toilet trained. His cognitive skills were at approximately a 27-month level, and genetic follow-up confirmed Ohdo blepharophimosis syndrome. The mother had subsequently given birth to a second child with the same syndrome.
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