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Olcay Sah*, Medya Namdar*, Yakup Sögütlü*, Suat Biçer**
* Marmara University Faculty of Medicine, Department of Pediatrics, Istanbul, Turkey and ** Yeditepe University Faculty of Medicine, Department of Child Health and Pediatrics, Istanbul, Turkey
Address for Correspondence: Dr Suat Biçer, Associate Professor, Yeditepe University Hospital, Atasehir, Istanbul, Turkey. E-Mail: firstname.lastname@example.org, email@example.com
A twenty-month-old boy with weight of 1.9 kg (<3% percentile) and length of 45 cm (< 3% percentile) was brought to our pediatric emergency room with dyspnea, tachypnea, and hypoxemia. He had hyponatremia (110 mEq/L), hypochloremia (79 mEq/L), hypocalcemia (total
7.2 mg/dL, ionised calcium 3.8 mg/dL), hypokalemia (3.5 mEq/L), elevated transaminases (AST 152 U/L, ALT 54 U/L), high CRP (16.2 mg/L) and high creatinine (0.54 mg/dL). Venous blood gas was normal. He had multiple congenital anomalies including cleft palate,
congenital bone defects (radial ray anomalies including right absent thumb and left partially formed thumb without bone formation, syndactyly in the left foot, thin extremities, bilaterally pes equinovarus, short stature, saddle nose, and frontal bossing),
low-set ears, micrognathia, truncal hypotonia, macrocephalus with hydrocephalus, hypotrichosis including scarce eyelashes, eyebrows, and hairs, hypodontia, erythematous skin changes and telangiectasias on extremities (Figure 1a and 1b
), thin and dry skin, micropenis and small testes. He was second born out of a consanguineous marriage (second degree cousins), and was born by emergency cesarean section at 35 weeks of gestation. Birth weight was 1300 gram. He was operated for anal atresia
at 13 day of life. He had recurrent vomiting and diarrhea without a specific diagnosis to date. His sister who was 4.5 years old had the same congenital bone defects plus dermal findings including hyperpigmentation and multiple telangiectasias on her face
Figure 1a. Hypotrichosis, saddle nose, low-set ears, micrognathia, absent right thumb, syndactyly, erythematous skin changes, atrophy and telangiectasias.
Figure 1b. Radiological findings showing absence of epiphyses, malformed radius, short metacarpal and phalangeal bones, and absence of first metacarpus and phalanx.
What is the diagnosis_?