Gail E. Graham, MD

This 8-year-old girl presented with bilateral ptosis, down-slanting palpebral fissures, malar hypoplasia, mild micrognathia, and mild webbing of the neck. She also had marked lumbar lordosis and a dextroconvex thoracic scoliosis with scapular winging. There was a generalized reduction in muscle mass with proximal limb weakness, short stature, diminished deep tendon reflexes, and an awkward waddling gait.

A 6-year-old girl presented with a huge ulcer on her right heel, seen here, that began as a minor laceration when she stepped on a rock several months earlier. On the left heel, there was a similar lesion in the process of healing that had also followed a minor injury. Her feet and hands were dry and hyperkeratotic.

An 18-month-old girl was noted to have somatic overgrowth, macroglossia, macrostomia, fading telangiectatic nevi over the glabella and eyelids, vertical creases on the earlobes, a short nose with anteverted nares, and a long philtrum. She also had an ejection systolic murmur best heard at the left mid- and upper sternal border, compatible with an atrial septal defect.

An 11-year-old girl presented with central clefting and syndactyly of the third and fourth digits of the right hand; sparse, fine blond scalp hair; sparse eyebrows; and numerous dental caries. Past health was unremarkable except that she had stenosis of the nasolacrimal ducts, which required probing when she was 1 year old. Her mother also had somewhat sparse and fine scalp hair and similar hand malformations with ridged and slow-growing nails, as well as mild conductive hearing loss.

A 3120-g male infant was born to a 31-year-old gravida II para I mother at 37 weeks' gestation following an uncomplicated pregnancy. There was no history of oligohydramnios, but diminished fetal movements were noted. The infant was born vaginally with complete breech presentation and Apgar scores of 7 and 8 at 1 and 5 minutes, respectively.