[Constitutional deficiency in factor vii: study of two observations with review of the litterature]

Introduction: constitutional deficit in factor VII is an hereditary haemorrhagic autosomal recessive disease due to the decrease or the absence of factor VII in coagulation. It is a rare pathology with a frequency estimated at 1/500.000. Clinical expression is very variable and the severity of the haemorrhagic syndrome does not correlate with the residual rates in factor VII

Observation number 1: Kamel, a 9 year-old boy, descending from cousin-german parents is hospitalized for an average abundance recurrent epistaxis since the age of 2 years. Medical exam in the admittance found only a cutaneous and mucous paleness. On the biologic level, we noted set apart, a microcytic hypochrome-plate anaemia at 8 g / dl, a low TP at 35 per cent while TCA was normal [24/30]. The dosage of factors of coagulation showed a low rate in factor VII, of 24 per cent thus confirming the diagnosis of a congenital innate deficit in factor VII. This child was put taking out under martial supplementation after spontaneous drying up of the bleeding

Observation number 2: Wassim who is a newborn male, 3-rd child of cousin-german parents, is admitted at the age of 2 days for an average abundance of hematemesis. He is born from a well followed pregnancy and a caesarean delivery. Vitamin K was received at birth. At the age of 2 days, he presented an average abundance hematemesis whence the admittance in our service. Exam at the admittance was normal and he did not present exteriorized bleeding. A biologic balance showed a low TP twice at 17 and 15 per cent with a normal TCA at 32/30. The dosage of factors of coagulation in particular the factor VII practised with the baby showed a low rate of 1,5 per cent thus confirming the diagnosis of a congenital deficit in factor VII

Conclusion: At its worst, deficit in factor VIlcan put at stake the vital functional prognostic or even the vital one. The prognostic of the disease remains bound to the risk of notably serious cerebral bleedings arising in neonatal period. It is necessary to make a genetic council for the consanguineous parents of a patient affected with this disease

[Hereditary osteo-onychodysplasia. a case report]

Hereditary osteo-onycho-renal dysplasia is a rare genetic disorder also known as nail patella syndrome. It is an autosomal dominant hereditary disease with complete penetration but variable expressivity. The basic manifestations include: iliaque horns, finger nail abnormalities, patella hypoplasia or aplasia and elbow deformities. Nephropathy accompanied by mild proteinuria is also thought to be a commun manifestation. We report the case of 7 years old boy and his family who show clinical features of NPS