Alexander K. C. Leung, MD

September 14, 2005

These are hyperpigmented, regularly bordered, sharply demarcated macules that are usually tan or light brown in whites and dark brown in dark-skinned persons. The lesions are characterized by an increased number of melanocytes and an increased amount of melanin in the epidermis.

September 14, 2005

This newborn has Cornelia de Lange syndrome, a disorder characterized by prenatal growth retardation (this child weighed 2240 g at birth and measured 46 cm in length), microbrachycephaly, bushy eyebrows, long eyelashes, short neck, low posterior hair line, depressed nasal bridge, anteverted nares, long philtrum, thin upper lip, downturned corners of mouth, micrognathia, a single umbilical artery, phocomelia, micromelia, and oligodactyly.

September 14, 2005

This newborn has trisomy 18, as manifested by intrauterine growth retardation (birth weight, 2350 g; length, 47.2 cm), microcephaly (head circumference, 31.5 cm), short neck, hypotonia, feeding difficulties, high-pitched cry, micrognathia, cleft palate, low-set ears, short sternum, widely spaced nipples, clenched hands with ulnar deviation and overlapping digits, micromelia, and a single umbilical artery.

September 14, 2005

The parents of a 10-year-old boy of normal intelligence brought him for evaluation because of his tall stature. He was 154 cm tall (3 cm above 97th percentile) and weighed 34.3 kg (50th percentile). He exhibited significant arachnodactyly, with an upper to lower segment ratio of 0.8 and an arm span to height ratio of 1.1. He had a long, angular face with a high arched palate and crowded dentition, ptosis, myopia, superior lens subluxation, pectus excavatum, widely spaced and low-set nipples, grade 2/6 ejection systolic murmur at the left sternal border, midthoracic scoliosis, joint hypermobility, positive thumb sign and wrist sign, and pes planus.

September 14, 2005

This 8-year-old girl was born with multiple congenital anomalies. The child had broad, short feet; postaxial polydactyly of the feet bilaterally; brachydactyly of the hands; cystic dysplasia of the kidneys; a single atrium; ventricular septal defect; retinitis pigmentosa; flat nasal bridge; and anteverted nares.

September 14, 2005

The nonpruritic hypopigmented lesions on this 13-year-old girl's cheeks are characteristic of pityriasis alba, which typically occurs in children of both sexes between the ages of 3 and 16 years.

September 14, 2005

A mass on the left side of the scrotum was the presenting complaint of a 7-year-old boy. The mass increased in size when the child cried, strained or coughed. Physical examination showed a left scrotal mass that was reducible with manipulation when the child was lying down. The left spermatic cord was found to be thickened-the "silk" sign.

September 14, 2005

Two weeks after the subcutaneous injection of 0.5 mL of varicella vaccine in a 2-year-old girl's left arm, a nonpruritic rash developed on the child's upper abdomen and left forearm. She had no fever. The lesions subsided after 5 days.

September 14, 2005

This 7-month-old infant had light red macules on the glabella that were first noted at birth. By the time the child was 2 years old, the lesions were only faintly visible.

September 14, 2005

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.