[Neonatal cri-du-chat syndrome revelead by facial dysmorphism and weak suction: a case report]. / Syndrome de cri du chat révélé par une dysmorphie cranio-faciale et faible succion chez un nouveau-né: à propos d'un cas.

Cri-du-chat syndrome is a rare genetic disorder, due to a deletion of the short arm of chromosome 5 (5p-). Its incidence is ranging from 1/15000 to 1/50000 live births. This was a one-day-old male newborn from a non-consanguineous marriage, the first pregnancy uncomplicated and carried to term with a birth weight of 2295g. Clinical examination revealed: craniofacial dysmorphism with hypertelorism and microcephaly, hypotonia, poor suction and clubfoot more marked on the right, the rest of the examination was unremarkable. During hospitalization, a high-pitched monochromatic cry mimicking a cat's meow was observed. The clinical diagnosis was confirmed by fluorescence in situ hybridization, showing a deletion of the short arm of chromosome 5 (5p15.2). The basic malformative work-up came back without any other abnormalities. The association of a high-pitched monochromatic cry with craniofacial dysmorphism in a newborn should indicate the need for cytogenetic study, in particular fluorescence in siti hybridization.

[Diagnosis and management of severe neonatal thrombocytopenia due to maternal alloimmunization against fetal platelet antigens: case study and literature review]. / Diagnostic et prise en charge d´une thrombopénie néonatale sévère par allo-immunisation materno-fœtale: rapport d´un cas et revue de la littérature.

Thrombocytopenia is a common hematologic disorder in the neonatal period. It can occur in neonates hospitalized in the Intensive Care Unit and in preterm infants. It is characterized by a platelet count of less than 150.000/mm3. In the context of immune thrombocytopenia, neonatal thrombocytopenia due to maternal alloimmunization (estimated at 1 per 1000 live births) is not a rare event but it is often undiagnosed in minor forms. This is caused by maternal immunization against fetal platelet antigens inherited from the father and lacking in the mother. Maternal IgG alloantibodies cross the placenta causing fetal platelet destruction. In severe thrombocytopenia, consequences can be severe, with intracranial bleeding occurring in 10-30% of patients. Diagnosis is essentially based on clinical examination and must be suspected by pediatricians.