XK aprosencephaly syndrome

XK aprosencephaly syndrome is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.

Aprosencephaly



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PMID (PMCID)
15329833
 MIXED_SAMPLE
Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome?
McPherson E, Huff D, Dunn J, Muenke M.
Birth Defects Res A Clin Mol Teratol. 2004;70(8):537-44.
XK aprosencephaly, also called Garcia-Lurie syndrome (GLS), is a usually sporadic disorder with radial limb defects and aprosencephaly/atelencephaly.
15329833
 MIXED_SAMPLE
Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome?
McPherson E, Huff D, Dunn J, Muenke M.
Birth Defects Res A Clin Mol Teratol. 2004;70(8):537-44.
XK aprosencephaly, also called Garcia-Lurie syndrome (GLS), is a usually sporadic disorder with radial limb defects and aprosencephaly/atelencephaly.
8256818
 MALE Infant, Newborn
Mosaic r(13) in an infant with aprosencephaly.
Goldsmith CL, Tawagi GF, Carpenter BF, Speevak MD, Hunter AG.
Am J Med Genet. 1993;47(4):531-3.
We report on a stillborn male infant with a mosaic ring 13 karyotype (45, XY,-13/46,XY,-13,+r(13)) with apparent aprosencephaly and clinical findings similar to those reported previously in the XK-aprosencephaly syndrome.
3287923
 FEMALE Infant, Newborn
XK aprosencephaly and anencephaly in sibs.
Townes PL, Reuter K, Rosquete EE, Magee BD.
Am J Med Genet. 1988;29(3):523-8.
The coexistence of anencephaly and aprosencephaly within a sibship suggests that XK aprosencephaly syndrome may be an autosomal recessive disorder.
114053
 MALE Infant, Newborn
Brief clinical reports: aprosencephaly-atelencephaly and the aprosencephaly (XK) syndrome.
Lurie IW, Nedzved MK, Lazjuk GI, Kirillova IA, Cherstvoy ED.
Am J Med Genet. 1979;3(3):301-9.
Brief clinical reports: aprosencephaly-atelencephaly and the aprosencephaly (XK) syndrome.
114053
 MALE Infant, Newborn
Brief clinical reports: aprosencephaly-atelencephaly and the aprosencephaly (XK) syndrome.
Lurie IW, Nedzved MK, Lazjuk GI, Kirillova IA, Cherstvoy ED.
Am J Med Genet. 1979;3(3):301-9.
Brief clinical reports: aprosencephaly-atelencephaly and the aprosencephaly (XK) syndrome.
114053
 MALE Infant, Newborn
Brief clinical reports: aprosencephaly-atelencephaly and the aprosencephaly (XK) syndrome.
Lurie IW, Nedzved MK, Lazjuk GI, Kirillova IA, Cherstvoy ED.
Am J Med Genet. 1979;3(3):301-9.
Since atelencephaly is a less severe form of aprosencephaly we chose to designate the condition in these two patients as "the aprosencephaly (XK) syndrome."
114053
 MALE Infant, Newborn
Brief clinical reports: aprosencephaly-atelencephaly and the aprosencephaly (XK) syndrome.
Lurie IW, Nedzved MK, Lazjuk GI, Kirillova IA, Cherstvoy ED.
Am J Med Genet. 1979;3(3):301-9.
Since atelencephaly is a less severe form of aprosencephaly we chose to designate the condition in these two patients as "the aprosencephaly (XK) syndrome."
114053
 MALE Infant, Newborn
Brief clinical reports: aprosencephaly-atelencephaly and the aprosencephaly (XK) syndrome.
Lurie IW, Nedzved MK, Lazjuk GI, Kirillova IA, Cherstvoy ED.
Am J Med Genet. 1979;3(3):301-9.
The cause of the aprosencephaly (XK) syndrome is unknown.