Sep 21, 2004

The longest surviving child with Hoyeraal-Hreidarsson Syndrome

Haematologica
Mehmet Akif OzdemirHakan Gumus

Abstract

We describe the case of a 12-year old boy with Hoyeraal-Hreidarsson Syndrome (HHS). This syndrome includes intrauterine growth retardation, microcephaly, mental retardation, cerebellar malformation, and pancytopenia. HHS is a severe multisystem disorder associated with premature mortality, due to bone marrow failure. The pathogenesis and genetic basis presently is unknown. Onset of HHS has only been described in boys and reporters speculated that HHS may be a severe form of X-linked dyskeratosis congenita (DKC). In this paper, we reported an autosomal recessive form of HHS in a family. Almost all cases have died before 4 years (except one at 7 years) our patient is alive at his 12th year at all, probably because of autosomal recessive gene transmission.

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Mentioned in this Paper

Cerebellar Diseases
Bone Marrow Failure Syndromes
Pathogenic Aspects
Pathogenesis
Fetal Growth Retardation
HOYERAAL-HREIDARSSON Syndrome
Long-Term Survivors
X-Linked Dyskeratosis Congenita
Consanguinous Mating
Compound A 12

About this Paper

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