Letter from Baghdad: Coffin–Siris syndrome in a girl with absent kidney

I am a pediatric nephrologist at the University Hospital in Al Kadhimiyia, one of only three teaching University hospitals in Baghdad, Iraq. Though I am not trained formally in genetics, I have a longstanding interest in syndrome diagnosis. As much of the medical world rapidly moves in the direction of using sophisticated laboratory diagnosis, it is important to remember that clinical observation, basic textbooks, and internet resources are what many of us rely on in the rest of the world. In this instance, I diagnosed Coffin–Siris syndrome (CSS) in a girl with renal agenesis [Coffin and Siris, 1970], and think that she may be the first Arab patient. I looked at her facial features, checked a pediatric nephrology textbook, and used a well-known internet search engine. You may wonder how a nephrologist developed skills in syndrome diagnosis in Iraq. I am self-taught. More importantly, I have a lifelong commitment to learning this skill. Even as a senior pediatric resident 10 years ago, I made extra effort to diagnose difficult cases. Some of my colleagues gave me the nickname ‘‘The Professor’’ and I took pride in recognizing rare disorders. They challenged me that diagnosing rare disorders was a useless pursuit. During the first month of my senior pediatric rotation in the neonatal unit, I diagnosed diastrophic dysplasia in a patient who had been diagnosed with achondroplasia by two faculty members. I was proud that the diagnosis was changed. As the current head of the department of pediatrics and director of postgraduate continuing medical education, I consider it my responsibility to document the occurrence of rare disorders. The day that I met this patient was a typical hot August daywhen I arrived at thehospital. I havebeen working here for more than 10 years and generally travel by taxi. The clinic where I see most young patients is a relatively quiet place. It is not too full as you might imagine since it is a consultation clinic for pediatric disease, not a general outpatient clinic. The place is relatively well organized. My secretary sits in theouter roomanda 3rd year pediatric resident helps by weighing and measuring patients. The girl who had been referred to me was a dysmorphic 4 years old with mental retardation who was hyperactive and difficult to control. She had been evaluated by several pediatricians and was brought by her mother, a 32-year-old school teacher who was the sole support for her daughter. Theparentsweredivorced, and the mother said tearfully that her daughter’s problems played a role in the failure of the marriage. The parents were a city couple. The girl had been their only pregnancy, and the parents were not related. The father was 34 years old. The girl had been born at 30 weeks of gestation by cesarean delivery because of lack of progress during labor, at a hospital providing good prenatal care. The mother did not report taking any drugs during pregnancy. Although the pregnancy was uneventful, fetal movement was so poor that she thought the fetus was probably dead. Ultrasonography was not performed. At birth, weight was 1.75 kg and all of growth parameters were below the 3rd centile. She had coarse facial features with thick eyebrows, mild left ptosis, large mouth, thick prominent lips, facial hypertrichosis, and low nuchal hair line. Her palms had single creases. Fingers and nails were small, and the terminal phalanges of her fingers were small with hypoplastic changes more severe on the little finger of the right hand. There was no edema. Abdominal examination and blood pressure was normal. Radiological examination showed hypoplastic distal phalanges with rudimentary terminal phalanx