Seckel's-like syndrome with primordial dwarfism, marked mental retardation, and severe heart malformation

Abstract

Introduction: Seckel's Syndrome, also called “Bird headed” syndrome was first described by Seckel in 1960. The very rare genetic and heterogeneous disorder, inherited in an autosomal recessive manner, is characterized by severe proportionate dwarfism of prenatal onset with mental retardation, dysmorphic facial features like a bird's with microcephaly, large beaked nose, and micrognathia. Our aim was to describe a typical case and give a focused literature review. Case report: A boy aged 7, with a birth weight of 1.9kg, whose parents are first cousins, was referred to our department for severe dwarfism. His mother reported hyperactivity and mental retardation. He weighed 8kg, measured 81cm (-6SD) and his cranial perimeter was 31 cm. He had a bird-like face with receding chin and forehead, large eyes, and prominent nose. In addition to his dysmorphic face, clinical examination showed kyphoscoliosis, flat feet, hypospadias and a systolic heart murmur heard in the pulmonic area of the chest, radiating into the back. There was no sign of right cardiac insufficiency. Echocardiography showed a large atrial-septal defect with enlarged right atrium and ventricle. Routine and haematological analyses were normal. Endocrine assessment was normal even for growth hormone and insulin growth factor (IGF-1). Psychological examination argued for severe mental retardation. Genetic screening was not available because of parents' low socioeconomic status. Conclusion: Consanguinity, intra and post natal severe dwarfism, mental retardation, body malformations with typical bird-headed aspect most likely indicate a diagnosis of Seckel's Syndrome worth being reported for its rarity.