New autosomal recessive syndrome with short stature and facio-auriculo-thoracic malformations.Am J Med Genet A. 2004 Aug 01; 128A(4):414-7.AJ
Two sibs, a boy and a girl, from a Lebanese consanguineous family presented with short stature, microcephaly, ptosis, small, dysplastic, low set ears, short neck, and pectum excavatum and carinatum. In addition, the boy had a high arched palate, a cardiac malformation, and at the X-rays an absence of fusion of the posterior hemi-arches of C7 and a fusion between L5 and S1 with a sagittal-cleft vertebral body of L5, while his sister had a cleft lip/palate and at the X-rays an abnormal odontoid peg and a malformation of the articular facets between C1 and C2, and bilateral cervical ribs. Other laboratory and radiological investigations were normal. Sequencing of PTPN11 exons 2, 3, 4, 7, 8, 12, and 13 did not reveal any variations. Two other sibs presented almost the same dysmorphic features; one girl died at age 6(1/4) years after an acute episode of renal insufficiency, and one boy died at 40 days of age. Differential diagnosis is discussed and the possibility of the report of a new autosomal recessive syndrome with variable expressivity is raised.