Seckel syndrome in a Yemeni family in Saudi Arabia

Abstract

We studied a 28-year-old Yemeni woman with typical Seckel syndrome. Two deceased sibs, a twin sister and a brother, had also been affected. The father of these individuals was married to his cousin's daughter: the pedigree suggests autosomal recessive inheritance. Classical Seckel syndrome has not been reported previously in Arabs, and this appears to be the first report from the Middle East.

Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two Patients with Seckel syndrome

“…It should be noted that neither of our patients have had any hematological complications, while the patients with Seckel syndrome who were reported to have had spontaneous and MMC-induced chromosomal breakage were ascertained when they developed pancytopenia or hematological malignancies [Butler et al, 1987;Hayani et al, 1994;Syrrou et al, 1995]. This is the second report of Seckel syndrome in patients from the Arabian peninsula [Krishna et al, 1994]. A larger analysis of patients from different eth- nic groups is clearly needed to define the full clinical spectrum of Seckel syndrome.…”

MR findings in Seckel's syndrome: report of a case

“…In patient 1 of Krishna et al [3], CT and MRI revealed a small cerebrum with poor convolutional markings, comparatively large cerebellum and possibly a congenital, midline arachnoid cyst. The CT of a 2-month-old affected boy, patient 1 of Sugio et al [4], demonstrated hypoplastic cerebrum and cerebellum resulting in a largely empty intracranial space.…”

Palatoplasty in a patient with Seckel syndrome

“…in 1997 characterized this disorder as autosomal recessive, resulting from consanguineous marriages. [34] This disorder has a wide range of phenotypic features such as hydrocephalus, intrauterine and postnatal growth retardation, mental retardation, typical beak-like triangular nose, and skeleton and dentition immaturity as described by Majeswski et al . and Goecke et al .…”

“…Seckel syndrome first described in 1960[1] (also known as bird-headed dwarfism, microcephalicprimodial dwarfism, nanocephalic dwarfism, and Seckel type dwarfism) is an autosomal recessive disorder[2] found in consanguineous marriages[34] and is characterized by severe Intra Uterine Growth Retardation (IUGR), postnatal growth retardation, mental retardation, bird-like face, and retroganthia. Its incidence is less than 1 in 10,000 live births with 25% chances of recurrence in subsequent siblings.…”