Atelencephalic Microcephaly

Aprosencephaly and cerebellar dysgenesis in sibs

“…The father's past medical history was also unremarkable. The family history was notable only for a paternal first Lazjuk et al, 1977;Lurie et al, 1979Garcia and Duncan, 1977Iivanainen et al, 1977Adkins and Kaveggia, 1979Lurie et al, 1980Martin and Carey, 1982Shewmon et al, 1984Siebert et al, 1986Young et al, 1986Towfighi et al, 1987 Chromosome ( Table I1 Bilateral clinodactyly fifth digit, camptodactyly fourth digit (left), bifid uvula, see Table I1 *CT, computed tomography; ND, not described; CNS, central nervous system. cousin with mental retardation of unknown cause.…”

“…Previously reported cases of aprosencephaly share several findings, including small head circumference with an intact scalp and calvaria (distinguishing aprosencephaly from anencephaly), and absence of the telencephalon, pyramids, and lateral and third ventricles. The remainder of the brain is variably affected, and some authors have used the term "atelencephalic microcephaly" [Garcia and Duncan, 1977;Shewmon et al, 1984;Siebert et al, 1986 Schrander-Stumpel et al, 19881 or "aprosencephalyatelencephaly" [Lurie et al, 1979;Harris et al, 19941 to describe cases with an absent telecephalon and only mild abnormalities of structures caudal to the third cranial nerves. If genitalia and limb abnormalities are also present, the term "syndrome aprosencephaly" or "XK aprosencephaly syndrome" has been applied [Martin and Carey, 1982;Lurie et al, 19791 (Table I).…”

Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities

“…Certainly the most spectacular case of aprosencephaly recorded to date is the sirenomelic fetus with aprosencephaly and cebocephalic face reported by Young et al 119861. The fetus was one of monozygotic * Cases of [Garcia and Duncan, 1977;Iivanainen et al, 1977;Lurie et al, 1979;Adkins and Kaveggia, 1979;Lurie et al, 1980;Martin and Carey, 1982;Mieden, 1982 (Case 2); Shewmon et al, 1984;Danner et al, 1985;Siebert et al, 1986Siebert et al, , 1987Young et al, 1986;Townes et al, 1988;Reynolds and Waldstein, 19881 "Cyclopia [Lurie et al, 1979;Mieden, 1982, Case 2; Reynolds and Waldstein, 19881 Apparent cyclopia [Martin and Carey, 19821 Cebocephaly [Young et al, 19861 Median cleft lip facies [Adkins and Kaveggia, 19791 Ocular hypotelorism, small nose [Townes et al, 19881 Sirenomelia [Young et al, 19861 Cutaneous defect, talipes equinovarus [Shewmon et al, 19841 Diaphragmatic hernia [Siebert et al, 19861 twins, the other being normal. Schinzel et al 119791 studied MZ twinning, noting frequent discordance for holoprosencephaly and sirenomelia.…”

Severe brain and limb defects with possible autosomal recessive inheritance: A series of six cases and review of the literature

“…In all cases, there is extreme microcephaly. The face is similar to that of a severe form of holoprosencephaly; the ocular globes are abnormal or absent and cyclopia may be encountered; in connection with this, there is profound nasal hypoplasia [Hunter, 1993;Ivanainen et al, 1977;Siebert et al, 1987;Shewmon et al, 1984]. Abnormal genitalia are an almost constant finding.…”