Short stature and facioauriculothoracic malformations were described together in a Lebanese family. The sibs had short stature, microcephaly, ptosis, dysplastic ears, high arched palate or cleft lip/ palate, short neck, pectum excavatum and carinatum, cardiac malformation and mild cervical, and/or lumbar spine malformations.
Megarbane et al. (2004) studied two Lebanese sibs sharing clinical features that were not previously described together and mainly included short stature, microcephaly, ptosis, dysplastic ears, short neck, pectum excavatum and carinatum, and mild cervical and/or lumbar malformations. The first patient was a 12-year-8-month-old boy and the other was a 7-year-6-month-old girl. Their parents were healthy first cousin Christians. At birth, the boy showed bilateral malformed external ears and ventricular septal defect, whereas the girl showed small ears and a cleft lip/palate that was operated at nine months. Some lentigines were present over the boy's face and thorax. On radiological examination, the boy disclosed an absence of fusion of the posterior hemi-arched of C7 and a fusion between L5 and S1, with a sagittal-cleft vertebral body of L5. The girl had, at X-rays, an abnormal odontoid peg and a malformation of the articular facets between C1 and C2, and bilateral cervical ribs. ECG was performed for the boy revealing the presence of mild stenosis in the sub-aortic membrane and a small perimembranous ventricular septal defect with a left to right shunt. His right aortic cusp was prolapsed into the ventricular septal defect and toward the right ventricle with an important aortic regurgitation (grade III). Three months later, he was operated from his heart malformation and recovered without any complication. Normal chromosome karyotype was detected in the boy (46,XY) as well as the girl (46,XX). Sequencing of exons 2, 3, 4, 7, 8, 12, and 13 of the protein tyrosine phosphatase, non-receptor type 11 (PTPN11) gene, responsible of some cases of Noonan syndrome, was normal, therefore, Noonan syndrome was excluded. The patients had three other healthy sisters, and one of them had a few lentigines. Also, they had a sister and a brother who had presented the same features of the affected sibs, but they died. The sister died at the age of six years from cardiac arrest after acute renal failure following a treatment for an episode of seizures and the boy died at 40 days of age. As the parents were consanguineous and the affected sibs were from both sexes, Megarbane et al. (2004) suggested an autosomal recessive mode of inheritance for that new entity.