Schinzel Acrocallosal syndrome

Sheffali Gulati; Shaji Menon; Madhulika Kabra; Veena Kalra

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Schinzel Acrocallosal syndrome

机译：Schinzel顶call综合征

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Acrocallosal syndrome (ACLS), also known by its synonyms: Schinzel Acrocallosal syndrome and Hallux duplication, Postaxial polydactyly and absence of corpus callosum, is a rare genetic disorder that is apparent at birth. Although autosomal recessive inheritence has been suggested, ACLS often appears to occur sporadically. Typical characteristics of ACLS are hypoplasia/ agenesis of corpus callosum, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformations and growth retardation. It has not been reported from India so far. This article reports a 5-month-old boy with combination of abnormalities consistent with acrocallosal syndrome. Key words Schinzel Acrocallosal syndrome - Acrocallosal syndrome - Postaxial polydactyly - Agenesis of corpus callosum

机译：顶肢综合症（ACLS），也因其同义词而闻名：Schinzel顶肢综合症和Hallux重复，后轴多指和and体缺失是一种罕见的遗传疾病，在出生时就很明显。尽管已经提出常染色体隐性遗传，但ACLS经常似乎偶尔出现。 ACLS的典型特征是call体发育不全/发育不全，中度至重度智力低下，颅面面部特征异常，明显的数字畸形和发育迟缓。到目前为止，印度尚未报道。本文报道了一个5个月大的男孩，其合并有与肩call骨综合征相符的异常情况。关键词Schinzel肩cro骨综合症-肩cro骨综合症-后轴多指-call体发育

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《Indian Journal of Pediatrics》 |2003年第2期|p.00000173-00000176|共4页
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Sheffali Gulati; Shaji Menon; Madhulika Kabra; Veena Kalra;
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1. Olfactory bulb and olfactory tract abnormalities in acrocallosal syndrome and Greig cephalopolysyndactyly syndrome [J] . Subramanian Subramanian, Rajan Deepa Soundara, Gaesser Jenna, Pediatric radiology . 2019,第10期

机译：亚代合理综合征和Greig Cephalopyyndactyly综合征的嗅球和嗅觉血液异常
2. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. [J] . Putoux A, Thomas S, Coene KL, Nature Genetics . 2011,第6期

机译：KIF7突变会导致胎儿死水和肩call综合症。
3. West Syndrome in a Patient With Schinzel-Giedion Syndrome [J] . Miyake Fuyu, Kuroda Yukiko, Naruto Takuya, Journal of child neurology . 2015,第7期

机译：Schinzel-Giedion综合征患者的西部综合征
4. Sharp Bounds on Davenport-Schinzel Sequences of Every Order [C] . Seth Pettie Annual symposium on computational geometry . 2013

机译：每个阶的Davenport-Schinzel序列的界线
5. Pediatric Germline Predispositions to Myelodisplastic Syndrome, Expert Guidance for the Initial Evaluation and Management of SAMD9 and SAMD9L Variants, and the Importance of Database Development for These Rare Syndromes [D] . Nelson, Catherine. 2021

机译：小儿种芽髓倾向于骨髓性综合征，初步评估和管理的专家指导和SAMD9和SAMD9L变体的重要性，以及数据库开发对这些罕见综合征的重要性
6. The acrocallosal syndrome and Greig syndrome are not allelic disorders. [O] . L A Brueton, K A Chotai, L van Herwerden, 1992

机译：顶骨综合征和格雷格综合征不是等位基因疾病。
7. Acrocallosal Syndrome (Schinzel Syndrome) [O] . J Gordon Millichap 1988

机译：亚丙基综合症（施扎尔综合症）

Schinzel Acrocallosal syndrome

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