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neu-laxova syndrome (63) 63
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female (43) 43
syndrome (35) 35
infant, newborn (26) 26
genetics & heredity (25) 25
pregnancy (25) 25
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ichthyosis (20) 20
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abnormalities, multiple - pathology (12) 12
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neu‐laxova syndrome (12) 12
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pathology (10) 10
serine (10) 10
fetal growth retardation - genetics (9) 9
microcephaly - genetics (9) 9
obstetrics & gynecology (9) 9
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ultrasonography (9) 9
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fetal growth retardation - diagnostic imaging (8) 8
genes, recessive (8) 8
limb deformities, congenital - diagnostic imaging (8) 8
neu-laxova-syndrome (8) 8
neu–laxova syndrome (8) 8
abnormalities, multiple - diagnosis (7) 7
craniofacial abnormalities - diagnostic imaging (7) 7
gestational age (7) 7
ichthyosis - genetics (7) 7
intellectual disability (7) 7
lissencephaly (7) 7
microcephaly - diagnostic imaging (7) 7
3-phosphoglycerate dehydrogenase-deficiency (6) 6
autosomal recessive inheritance (6) 6
endocrinology & metabolism (6) 6
fetal growth retardation - pathology (6) 6
infant (6) 6
neu laxova syndrome (6) 6
phosphoglycerate dehydrogenase (6) 6
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abnormalities, multiple - embryology (5) 5
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fetus (5) 5
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appropriate for gestational age (3) 3
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American Journal of Obstetrics and Gynecology, ISSN 0002-9378, 1988, Volume 158, Issue 3 I, pp. 574 - 575
Neu-Laxova syndrome is a rare form of congenital malformation characterized by intrauterine growth retardation, microcephaly with bizarre facial features,... 
Neu-Laxova syndrome | Pregnancy | Radiography | Abnormalities, Severe Teratoid - pathology | Humans | Adolescent | Fetal Growth Retardation | Female | Abnormalities, Severe Teratoid - diagnostic imaging | Syndrome
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2004, Volume 130A, Issue 3, pp. 303 - 306
Journal Article
Pediatric Neurology Briefs, ISSN 1043-3155, 09/1990, Volume 4, Issue 9, pp. 66 - 67
The diagnostic features and clinical signs of 21 patients with lissencephaly type I are reviewed from the Department of Neurology, Westeinde Hospital, The... 
Mi1ler-Dieker Syndrome | Isolated Lissencephaly Sequence | Neu-Laxova Syndrome
Journal Article
American Journal of Diseases of Children, ISSN 0002-922X, 1993, Volume 147, Issue 12, pp. 1309 - 1312
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS, ISSN 0148-7299, 02/2001, Volume 99, Issue 1, pp. 14 - 20
We report on two new cases of syndromic lissencephaly in two consanguineous sibs, with skeletal abnormality, born to young, healthy, second cousin parents with... 
microcephaly | fetal MRI | bone dysplasia | lissencephaly | stippled epiphysis | type III lissencephaly | GENETICS & HEREDITY | NEU-LAXOVA-SYNDROME | Neu Laxova syndrome | fetal akinesia sequence | PRENATAL-DIAGNOSIS | MANIFESTATIONS
Journal Article
Fetal & Pediatric Pathology, ISSN 1551-3815, 1986, Volume 5, Issue 3-4, pp. 295 - 306
Journal Article
GEBURTSHILFE UND FRAUENHEILKUNDE, ISSN 0016-5751, 05/1994, Volume 54, Issue 5, pp. 276 - 285
The Pena Shokeir phenotype (PSP) is characterised by multiple ankyloses, camptodactyly, facial dysmorphisms and lung hypoplasia with hydramnios. The basic... 
AUTOSOMAL RECESSIVE SYNDROME | NEU-LAXOVA SYNDROME | DISTAL ARTHROGRYPOSIS | I-SYNDROME | FACIAL ANOMALIES | PULMONARY HYPOPLASIA | PTERYGIUM SYNDROME | ARTHROGRYPOSIS MULTIPLEX CONGENITA | DEFORMATION SEQUENCE | PRENATAL-DIAGNOSIS | OBSTETRICS & GYNECOLOGY
Journal Article
07/2017, Volume 40, Issue 4
In recent years the number of disorders known to affect amino acid synthesis has grown rapidly. Nor is it just the number of disorders that has increased: the... 
INTELLECTUAL DISABILITY | 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY | MUTATIONS CAUSE | NEU-LAXOVA SYNDROME | SERINE BIOSYNTHESIS PATHWAY | GLUTAMINE-SYNTHETASE | RECESSIVE CUTIS LAXA | ASPARAGINE SYNTHETASE DEFICIENCY | ENCODING DELTA-PYRROLINE-5-CARBOXYLATE SYNTHASE | INBORN-ERRORS
Publication
American Journal of Medical Genetics, ISSN 0148-7299, 12/1982, Volume 13, Issue 4, pp. 445 - 452
We describe an infant with the Neu‐Laxova syndrome. Some new guidelines for syndrome identification are presented, using this syndrome as an example. 
COFS syndrome | syndromology | Neu‐Laxova syndrome | Microcephaly - genetics | Edema - genetics | Humans | Fetal Growth Retardation - genetics | Infant | Brain - abnormalities | Genes, Recessive | Syndrome | Pregnancy | Female | Consanguinity | Abnormalities, Multiple - genetics | Infant, Newborn
Journal Article
RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS, ISSN 0390-671X, 12/1996, Volume 22, Issue 6, pp. 970 - 973
The Neu-Laxova syndrome is a rare, lethal disorder inherited as an autosomal recessive trait and characterized by intrauterine growth retardation,... 
SIBS | Neu-Laxova syndrome | PEDIATRICS | cerebral abnormalities | ichthyosis | FEMALE
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS, ISSN 0148-7299, 10/1991, Volume 41, Issue 1, pp. 30 - 31
We report on 2 Egyptian girls from 2 families with 8 affected relatives, 4 in each family. The 2 propositae had unusual facial appearance, severe microcephaly,... 
NEU LAXOVA SYNDROME (NLS) | SIBS | ICHTHYOSIS | GENETICS & HEREDITY | JOINT CONTRACTURE | INTRAUTERINE GROWTH RETARDATION | CONSANGUINITY | MICROCEPHALY
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 10/1991, Volume 41, Issue 1, pp. 30 - 31
We report on 2 Egyptian girls from 2 families with 8 affected relatives, 4 in each family. The 2 propositae had unusual facial appearance, severe microcephaly,... 
microcephaly | joint contracture | intrauterine growth retardation | consanguinity | ichthyosis | Neu Laxova syndrome (NLS) | Face - abnormalities | Humans | Egypt | Fetal Growth Retardation | Abnormalities, Multiple | Male | Microcephaly | Ichthyosis | Pregnancy | Female | Consanguinity | Infant, Newborn | Joints - abnormalities
Journal Article
American Journal of Medical Genetics Part A, ISSN 0148-7299, 01/1992, Volume 43, Issue 3, pp. 602 - 605
A diagnosis of the Neu-Laxova syndrome (NLS) was made by ultrasonography at 32 wks of gestation. Ultrasonographic examination showed intrauterine growth... 
Neu-Laxova syndrome | ultrasonography | man | prenatal diagnosis
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 1979, Volume 3, Issue 3, pp. 261 - 267
We report a stillborn girl with a complex syndrome of microcephaly, lissencephaly, severe subcutaneous edema, atrophic muscles, camptodactyly, syndactyly of... 
microcephaly | neuroectodermal dysplasia | lissencephaly | syndactyly | multiple congenital anomaly syndrome | edema of subcutis | Neu‐Laxova syndrome | autosomal recessive inheritance
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 01/1985, Volume 20, Issue 1, pp. 1 - 11
We present two new cases and data from a detailed study of the upper limbs (structural changes, the state of peripheral nerves, arteries, muscles and bones) of... 
upper limbs | congenital malformations | Neu‐Laxova syndrome | autosomal recessive syndrome | Abnormalities, Multiple - pathology | Humans | Female | Male | Nervous System Malformations | Arm - abnormalities | Bone and Bones - abnormalities | Abnormalities, Multiple - genetics | Infant, Newborn | Muscles - abnormalities | Syndrome | Arteries - abnormalities
Journal Article
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