hi every body
thanks for all who participate in the answer of the case , well this was a case of noonan syndrome.
Noonan syndrome occurs in 1:1000-2500 live births. The disorder is autosomal dominant with variable expression. Sporadic and autosomal recessive occurrence has been reported. Missense mutations in PTPN11-a gene on chromosome 12q24.1 encoding the nonreceptor protein tyrosine phosphatase SHP-2-are seen in the majority of studied cases
| The most common abnormalities are short stature, webbing of the neck, pectus carinatum or pectus excavatum, cubitus valgus, right-sided congenital heart disease, and characteristic facies. Hypertelorism, epicanthus, downward slanted palpebral fissures, ptosis, micrognathia, and ear abnormalities are common. Other abnormalities such as clinodactyly, hernias, and vertebral anomalies occur less frequently. The mean IQ of school-aged children with the condition is 86, with a range of 53 to 127. Verbal IQ tends to be better than performance IQ. High-frequency sensorineural hearing loss is common. The cardiac defect is most often pulmonary valvular stenosis, hypertrophic cardiomyopathy, or atrial septal defect. Hepatosplenomegaly and several hematologic diseases, including low clotting factors XI and XII, acute lymphoblastic leukemia, and chronic myelomonocytic leukemia, are noted. Features of both Noonan syndrome and type 1 neurofibromatosis have been reported, but linkage has been excluded. Noonan-like features can be part of the phenotypic variation of the NF1 gene mutation, suggesting the possible existence of a Noonan syndrome locus also on chromosome 17q. A few patients with NF1 and features of Noonan syndrome were subsequently reported as having Turner syndrome. Males frequently have cryptorchidism and small testes; they may be hypogonadal or normal. Puberty is delayed 2 yr; adult height is achieved by the end of the 2nd decade and usually reaches the lowest limit of the normal population. Prenatal diagnosis should be suspected in fetuses with normal karyotype, edema, or hydrops and short femur length. |
best regards
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