Prenatal growth retardation, pelvic hypoplasia, and arthrogrypotic changes of lower limbs:: A distinct autosomal-recessive disorder

被引：0

作者：

Sarralde, A

Reynoso, MC

Nazará, Z

Soto, F

Hernández, A

机构：

[1] IMSS, Ctr Invest Biomed Occidente, Div Genet, Guadalajara, Jalisco, Mexico

[2] Secretaria Salud Jalisco, Hosp Gen Occidente, Guadalajara, Jalisco, Mexico

[3] Inst Mexicano Seguro Social, Ctr Med Nacl Occidente, Dept Radiodiagnost, Hosp Especialidades, Guadalajara, Jalisco, Mexico

[4] Univ Sinaloa, Fac Med, Sinaloa, Mexico

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1998年 / 75卷 / 05期

关键词：

pelvic hypoplasia; arthrogrypotic lower limbs; muscular hypotrophy; short stature; autosomal-recessive inheritance;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on 5 sibs (4 males, 1 female) with growth retardation, severe pelvic hypoplasia, arthrogrypotic changes and muscular hypotrophy of the lower limbs, and mild vertebral changes of prenatal onset, To our knowledge, this syndrome has not yet been reported. The family history suggests autosomal-recessive inheritance.

引用

页码：453 / 460

页数：8

共 10 条

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[5] A new autosomal recessive syndrome - Early onset of pancytopenia, distinct facial features, growth retardation and developmental delay
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AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 71 (03): : 258 - 266
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[8] Possible new autosomal recessive syndrome of partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter changes, hypotonia, mental retardation, and minor anomalies
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AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 73 (02): : 184 - 188
[9] SEVERE PRENATAL AND POSTNATAL-GROWTH RETARDATION, DEVELOPMENTAL DELAY WITH HYPOTONIA AND MARKED HYPOTROPHY OF THE DISTAL EXTREMITIES, DENTAL ANOMALIES, AND ECZEMATOUS SKIN - A NEW AUTOSOMAL RECESSIVE ENTITY
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Kumar, Puneeth
Dey, Amit
Mittal, Kartik
Sharma, Rajaram
Goyal, Anmol
Hira, Priya
JOURNAL OF FAMILY MEDICINE AND PRIMARY CARE, 2019, 8 (01) : 311 - 312

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