Atiya Khan, MD

This 9-month-old infant was brought for evaluation of anteroposterior elongation of the cranium. The infant was born at term via uncomplicated vaginal delivery. His mother had noticed that his head was more elongated and narrower than his sibling's. He had achieved appropriate motor and social milestones for his age. Neither parent had a family history of abnormal head shape. The rest of the examination findings were unremarkable.

The adoptive parents of an 11-month-old infant noticed that their son did not use his right arm as often as the left. Concern for brachial plexus injury was raised. Antenatal, natal, family, and early developmental history were unknown.

A male neonate was born at 39 weeks' gestation by vertex vaginal delivery with focal swelling of the head. Vacuum extraction and forceps were not necessary for delivery. The mother had no complications during labor. Apgar scores were 7 and 9 at 1 and 5 minutes, respectively. A cephalhematoma was suspected when the fluctuant parietal swelling did not transilluminate.

This 14-year-old boy has Lesch-Nyhan syndrome. The picture shows chronic scarring of the lip--a result of self-mutilating behavior that characterizes this syndrome. Lesch-Nyhan syndrome is also characterized by dystonia, choreoathetosis, and mental retardation--all of which are associated with hyperuricemia, write Arvind Vasudevan, MD, and Atiya Khan, MD, of Morgantown, WVa. This X-linked recessive abnormality of the long arm of the X chromosome (Xq26) causes a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) in the brain, liver, and red blood cells.1 In the United States, this condition may be as rare as 1 in 1.2 million.2 Because of the mode of transmission, this disorder affects males primarily; however, cases involving females have been reported.1 Partial variants of the syndrome involving decreased, but not entirely absent, levels of HGPRT also have been identified.2

During a neurologic evaluation for seizures, a 17-year-old boy with epilepsy was noted to have a deformity of both lower eyelids. According to the boy's mother, the deformity had been present since birth; it was not related to the patient's neurologic condition.

The parents of this 2-year-old boy brought their son for evaluation of swelling of the right leg and excoriation and serosanguineous discharge from the ankle region of 3 days' duration.The child had had a hemangioma of the right ankle since birth. Subsequently, there was gradual spread of the lesion along the leg to the buttocks.

This neonate was born at 34 weeks' gestational age via elective cesarean section because of breech presentation. He weighed 1950 g, and his Apgar scores were 7 and 8, at 1 minute and 5 minutes, respectively.

A 14-year-old girl presented with concerns about a "deformed" right shoulder. Despite the fact that there was no associated weakness, the defect made her self-conscious. She denied recent trauma to the site and severe physical exertion.