Further comments on the Neu‐Laxova syndrome

Curry, Cynthia J.

doi:10.1002/ajmg.1320130414

Cited by 49 publications

(26 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Is it a new one or an example of a previously described syndrome? Many manifestations are consistent with a diagnosis of Neu-Laxova syndrome [Neu et al, 1971;Laxova et al, 1972;Muellar, 1983;Curry, 1982;Lazjuk et al, 19791; however, it is our contention that the syndrome described in our patients is a polytopic dysplasia rather than a true malformation syndrome, and the hypothetical pathogenetic pathways are depicted in Figure 5. The ectropion may be due to tense skin of the eyelids which prevents proper closure and the dysplasia might be responsible for the hypospadias by preventing migration of the urethral opening.…”

Section: Discussionsupporting

confidence: 60%

Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: A fatal syndrome in hutterite and mennonite kindreds

Morgan

et al. 1985

Am. J. Med. Genet.

View full text Add to dashboard Cite

We present clinical findings in infants from three kindreds (two Hutterite and one Mennonite) with an apparently unique, fatal disorder. The major manifestations consist of severe intrauterine growth retardation, congenital contractures, and tense skin which is easily eroded. The skin is tightly drawn over the face, giving an abnormal appearance consisting of a narrow, pinched nose, small mouth, limited jaw mobility, and ectropion (in one). One infant had first-degree hypospadias. Apart from this, there were no organ malformations and the infants did not have hydrops. Histologically, the skin showed hyperkeratosis. It is postulated that this is a tissue dysplasia and that all of the clinical effects are secondary. The disorder appears to be an autosomal recessive trait. The two Hutterite families are from different endogamous subdivisions. They are related as fourth cousins once-removed and fifth cousins in multiple ways through the six nearest common ancestors of all four parents. There are 25 founders (11 couples and three individuals) who are common ancestors. We computed the probability of joint descent of the four alleles in each pair of parents and in a sample of Alberta Hutterite couples, assuming that each of the common founders in turn was the original carrier. For an allele from one particular founder couple, there is a relatively greater probability of identity by descent for each pair of parents than on the average for other couples of the same endogamous subdivision.

show abstract

Section: Discussionsupporting

confidence: 60%

Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: A fatal syndrome in hutterite and mennonite kindreds

Morgan

et al. 1985

Am. J. Med. Genet.

View full text Add to dashboard Cite

show abstract

“…Histology showed disorganization of bone formation. We agree with Shved et a1 [1985] that a defect in periostial growth might cause long-bone hypoplasia and it is doubtful whether skeletal changes are solely related to decreased movement as suggested by Curry [1982]. Muscle hypoplasia may be of secondary onset.…”

Section: Pathologysupporting

confidence: 87%

A case of the Neu‐Laxova syndrome: Prenatal ultrasonographic monitoring in the third trimester and the histopathological findings

et al. 1987

View full text Add to dashboard Cite

A diagnosis of the Neu-Laxova syndrome was made by ultrasonography in the third trimester of pregnancy. Initial ultrasonographic examination, at approximately 28 wk gestation, showed intrauterine growth retardation (IUGR), hypoechoic skeletal structures, kyphosis, feeble fetal activity, and restricted limb movement. Subsequent sonograms showed microcephaly with a receding forehead and prominent eyes, generalised edema and flexion deformities of limbs. Late third trimester findings included polyhydramnios, swelling and webbing of the knee and elbow joints, and severe edema of the hands and feet, giving the impression of absent digits. The clinical features of this case are consistent with group II of Curry's classification of the Neu-Laxova syndrome [Curry, 1982]. The histopathological findings, a triad of dermatological features, poor cortex formation of the long bones, and central nervous system (CNS) dysgenesis, are discussed. In view of the 25% recurrence rate, at risk pregnancies should be carefully monitored by ultrasonography: at 6-8 wk for accurate dating, at 12-16 weeks for active fetal limb movement, and at 16-24 wk for facial and skeletal anomalies, the detection of IUGR, and polyhydramnios.

show abstract

“…Patients with the Neu-Laxova syndrome also have severe congenital microcephaly, pachygyria, and tetraplegia. However, these cases die early postnatally and show a pattern of characteristic further findings including ichthyosis, short digits, undermineralised bones, and partial syndactyly.8 9 Antenatal ultrasonographic diagnosis of genetic microcephaly was recently reported by Pescia et al2 Because of the birth of a previous severely microcephalic child (OFC at birth 28 cm), several examinations were performed; the biparietal diameter was normal up to 18 weeks of gestation and fell below the 3rd centile between the 18th and 22nd week. The parents decided to continue the pregnancy, and therefore no further examinations were performed.…”

Section: Discussionmentioning

confidence: 99%

Autosomal recessive severe congenital microcephaly: antenatal ultrasonographic diagnosis and head growth from 15 to 24 weeks of gestation

Schinzel

Litschgi

1984

Journal of Medical Genetics

View full text Add to dashboard Cite

Further comments on the Neu‐Laxova syndrome

Cited by 49 publications

References 9 publications

Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: A fatal syndrome in hutterite and mennonite kindreds

Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: A fatal syndrome in hutterite and mennonite kindreds

A case of the Neu‐Laxova syndrome: Prenatal ultrasonographic monitoring in the third trimester and the histopathological findings

Autosomal recessive severe congenital microcephaly: antenatal ultrasonographic diagnosis and head growth from 15 to 24 weeks of gestation

Contact Info

Product

Resources

About