Congenital metacarpal pseudoarthrosis, cleft palate, short stature, advanced bone age, and genu valgum: A new syndrome or a variant of Devriendt syndrome?

摘要

The proband, an 11-year-old girl, was brought for evaluation of short stature and knee deformity. She had been born at term gestation through a normal vaginal delivery with a normal birth weight of 3 kg. Records of the other anthropometric parameters at birth were not available. She was the second offspring of a second-degree consanguineous couple. There was no history suggestive of any teratogenic exposures in the first trimester nor any adverse events in the antenatal, perinatal, or neonatal periods. At birth, she was noted to have short index fingers on both hands. She had delayed attainment of developmental milestones since early infancy and from the time she started attending school her academic performance was found to be below average. The parents also mentioned that she had undergone some surgery for a 'nasal voice' at 4 years of age; however, they were not able to produce any medical documents/records of that surgical procedure. There was no history suggestive of any other systemic illness. The family history was not significant. On examination, her anthropometric parameters were found to be as follows: height 114 cm (3rd centile;-4.5 SD), weight 24 kg (10th centile), and head circumference 50cm (3rd centile for age; 10th centile for height). The nasal bridge was wide and depressed; no other significant facial dysmorphism was noted (Fig. 1). Examination of the oral cavity indicated a surgical scar in the midline over the posterior part of the palate and an anteriorly displaced short uvula, suggestive of a surgically repaired partial cleft palate. The tongue, teeth, and the rest of the oral cavity were normal and there were no accessory oral frenulae. In both the hands, the second (index) finger was short with radial deviation; in addition, there was camptodactyly of the left index finger and of the bilateral fifth fingers (Fig. 2). The rest of the digits appeared normal. There was bilateral genu valgum (Fig. 3). The digits of the feet were normal. There were no other obvious skeletal, joint, nor cutaneous abnormalities. Her intelligence quotient was 70, indicative of borderline intellectual dysfunction. There were no focal neurological deficits. Clinical examination of the abdomen, cardiovascular, and respiratory systems did not indicate any abnormality.