Dubowitz syndrome: common findings and peculiar urine odor
A 5-year-old girl was presented to our institution because of failure to thrive. She was the fifth child of unrelated parents originating from the same village in the south of Lebanon. She was born vaginally at term to a 33-year-old mother; her birth weight was 2,200 grams. The course of pregnancy was normal and the mother denied any medication use, smoking, or alcohol intake. The girl’s perinatal history was significant for neonatal jaundice requiring phototherapy. The family history was unremarkable except for mental retardation in a maternal uncle and a congenital heart defect in an older brother.\nIn early infancy, the girl had feeding difficulties and failed to thrive. She also had a history of recurrent respiratory infections and eczematous skin changes. In addition, since birth she had had a musty urine odor that had never been reported in her family. Urine analyses were repeatedly normal.\nAt consultation, developmental evaluation revealed a hyperactive child with significant speech delay. Her vocabulary consisted of 10–15 words. She used few two-word sentences. Otherwise, the gross and fine motor abilities were adequate for her age. She made good eye contact and could understand and carry out simple verbal instructions, but she had a short attention span and impulsive behavior.\nUpon examination, her height was reported at 84 cm, her weight was 10 kg, and her head circumference was 44 cm, all below the third percentile according to US Centers for Disease Control growth charts.\nShe had fair, dry skin and sparse, fine blond hair. Her face was elongated with a high sloping forehead. She had sparse lateral eyebrows, long eyelashes, wide-set eyes (telecanthus) with hypertelorism, low-set ears, a broad nasal bridge with a prominent tip, micrognathia, a thin upper lip, a high-arched palate, dental caries, a sacral dimple, and eczematous skin changes on the extremities, mainly on the flexural areas ( and ).\nWhen she smiled, her facial skin wrinkled and she looked like a prematurely aged girl (). The remainder of the physical examination was normal.\nLaboratory workup yielded normal results for the following tests: complete blood count, serum blood urea nitrogen, creatinine, sodium, potassium, chloride, total serum protein, liver function, lipid profile, thyroid hormone, urine organic acids, plasma acylcarnitine profile and free carnitine level, plasma amino acids, serum lactate and pyruvate levels, plasma zinc, plasma immunoglobulins including normal immunoglobulin E levels, urinalysis, urine cultures, stool studies, insulin-like growth factor 1, antiendomyseal antibodies, sweat chloride, and 46, XX karyotype.\nOther tests included MRI examination of the brain, X-rays of the spine, a voiding cystourethrogram, and an upper gastrointestinal series; all were normal. An echocardiography revealed a trace mitral regurgitation. Bone age was 2-years delayed compared with the chronological age.