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CFC syndrome is characterized by ectodermal abnormalities, coarse face, macrocephaly,postnatal short stature and MR and is in the spectrum of MCA/MR syndromes. Case report: 10 yr old boy with short stature and coarse face. Family history unremarkable. 2nd born to nonconsanguineous parents, 32 wks gestation. Pregnancy complicated by threat of miscarriage. At birth (length 49cm; weight 2400g and OFC 32cm) hospitalized for prematurity and respiratory problems. Motor delay of lower limbs. Karyotype: 46,XY. Haematological, biochemical, metabolic, hormonal tests, fundus oculi, skeletal X-ray: normal. At 2 yrs autoimmune hemolitic anemia; at 3 yrs autoimmune thrombocytopenia; at 9 yrs autoimmune neutropenia. Surgery for tight achilles tendons. At 10 yrs: H 3rd centile, W 75th centile for Height Age, OFC 90th centile for HA; PH 1; bilateral cryptorchidism. Severe GHdeficit was diagnosed and he was submitted to GH-therapy; cryptorchidism required surgery. Echocardiography excluded CHD. Clinical examination: macrodolicocephaly, bitemporal constriction; shallow orbital ridges, sparse eyebrows and eyelashes; facial hyperkeratosis and dermatitis; telecantus; epicanthal folds, ptosis, strabismus, nystagmus; large, depressed nasal bridge; large mouth; higharched palate; low-set and posteriorly rotated ears; broad and short neck; thin upper and lower limbs, incomplete extension of cubitus; genu valgum; flat foot; nail dysplasia; multiple lentigo; pigmented naevi; glabra, dry and hyperkeratosic skin; curly, woolly, frizzy hair; hypertonia; normal intelligence. Our pt had clinical manifestations of CFC syndrome without MR. Possible differential diagnoses were Noonan syndrome (PTPN11 mutation 50%) and Leopard syndrome (PTPN11 mutation 90%). In our pt no mutation in PTPN11 gene was found. GHdeficit is not reported in CFC syndrome and there is only one pt without MR (Manoukian et al,1996). Our case could be the second case without MR and with associated GH-deficit. |
