Comments on the Neu‐Laxova syndrome and CAD complex

Scott, Charles I.; Louro, Jose M.; Laurence, K. M.; Tolarová, Maria; Hall, Judith G.; Reed, Susan D.; Curry, Cynthia J.

doi:10.1002/ajmg.1320090211

Cited by 44 publications

(45 citation statements)

References 5 publications

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“…The common and distinguishing clinical and radiographic features are reviewed. Scott et al [1981: Am J Med Genet 9:165-175] described two patients with NLS with radiographic and clinical findings similar to patients 1-4 reported here. Patients 1-4 of this report lack the typical findings of NLS and likely represent a distinct lethal skeletal dysplasia.…”

supporting

confidence: 82%

“…Furthermore, skin thickness and polyhydramnios may be other indicators of an affected pregnancy [Mueller et al, 1983;Russo et al, 1989;Monaco et al, 1992;Shapiro et al, 1992]. Scott et al [1981] discussed three patients with what appeared to be NLS. Their patients 1 and 2 showed remarkable similarity both clinically and radiographically to patients 1-4 reported here.…”

Section: Discussionmentioning

confidence: 97%

“…The third patient of Scott et al [1981] had severe joint limitation, clenched hands and fingers, and cutaneous syndactyly of fingers 2-4. Reported radiographic findings included underossification of the ribs, long gracile bones, poor ossification of the humerus, and mild trunk/limb disproportionality.…”

Section: Discussionmentioning

confidence: 98%

“…The ilia were dysplastic with marked hypoplasia of the acetabulae, and the pubic bones were poorly ossified. Patient 2 of Scott et al [1981] was also stillborn, with short limbs, a globular head, an extremely short neck, and swollen hands and feet with hypoplastic or absent digits without nails. The skin was described as thick and wrinkled.…”

Section: Discussionmentioning

confidence: 98%

“…Their patients 1 and 2 showed remarkable similarity both clinically and radiographically to patients 1-4 reported here. Patient 1 [Scott et al, 1981], a stillborn born to nonconsanguineous parents, had short limbs with generalized edema. The head was large and the neck was short.…”

Section: Discussionmentioning

confidence: 99%

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Cerebro‐osseous‐digital syndrome: Four new cases of a lethal skeletal dysplasia—distinct from Neu‐Laxova syndrome

Elliott

Gonzalès

et al. 2002

Am. J. Med. Genet.

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Neu-Laxova Syndrome (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia). Ichthyosis is often present. Limb anomalies include hypoplastic fingers and syndactyly of fingers and toes. Patients are usually stillborn or die shortly after birth. We report five unrelated patients--four with atypical NLS and one with typical NLS. All five patients were stillbirths. Clinically, the atypical NLS patients showed a large skull; rhizo-, meso-, and acromelia; and hypoplasia of the metacarpals and phalanges. The feet were similarly affected. Radiographically, the atypical patients showed interpediculate narrowing and hypoplastic vertebral bodies. The long bones were stick-like, showing diaphyseal widening that spared the metaphyses and was more pronounced in the lower extremities. The ilia had a half-moon configuration with widening of the sacrosciatic notches. The ischia were vertical and the pubic bone was absent. The typical NLS patient showed microcephaly, normal vertebral body, and long bone ossification, but a pelvic configuration similar to that of the atypical NLS patients. The common and distinguishing clinical and radiographic features are reviewed. Scott et al. [1981: Am J Med Genet 9:165-175] described two patients with NLS with radiographic and clinical findings similar to patients 1-4 reported here. Patients 1-4 of this report lack the typical findings of NLS and likely represent a distinct lethal skeletal dysplasia.

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supporting

confidence: 82%

Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

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Cerebro‐osseous‐digital syndrome: Four new cases of a lethal skeletal dysplasia—distinct from Neu‐Laxova syndrome

Elliott

Gonzalès

et al. 2002

Am. J. Med. Genet.

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Limb pterygium syndromes: A review and report of eleven patients

Hall

Reed

Rosenbaum³

et al. 1982

Am. J. Med. Genet.

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162

119

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Conditions with limb pterygia and congenital contractures were reviewed as part of a study of over 350 infants with arthrogryposis. Emphasis was placed on inheritance and variability of distinct pterygium conditions. Eleven patients with limb pterygia were recognized in our study and are described here. Seven of the 350 patients with congenital contractures had the autosomal recessively inherited multiple pterygium syndrome (Patients 1-7). Three of the seven are sibs, a fourth was born to consanguineous parents, and three were chance isolated cases. These seven had multiple joint webs, unusual finger contractures, syndactyly, rocker bottom feet, ptosis, antimongoloid slant of palpebral fissures, epicanthal folds, highly arched palate, scoliosis, and short stature. There is intrafamilial variability. Three patients from one family had a lethal multiple pterygium syndrome. Two were monozygotic twins. They had webbing and contractures of the elbows, knees, neck, and fingers, calcaneovalgus deformity of the feet, and an unusual facial appearance: hypertelorism, flat nose, antimongoloid slant of palpebral fissures, apparently low-set ears. One had a cleft palate. Internal malformations included: bilateral pulmonary hypoplasia, small heart, absence of the appendix, and attenuation of the ascending and transverse colon. One sporadic case of lethal popliteal pterygium with facial clefts was studied. Multiple anomalies included: ankyloblepharon filiforme adnatum, upslanting palpebral fissures, hypoplasia of nasal cartilages, frenula, clefts into the oropharynx lateral to the mouth, apparently low-set ears with slit-like canals, large popliteal pterygia, syndactyly with fusion of all digits in hands and feet, and hypoplastic labia.

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Further comments on the Neu‐Laxova syndrome

Curry

1982

Am. J. Med. Genet.

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Comments on the Neu‐Laxova syndrome and CAD complex

Cited by 44 publications

References 5 publications

Cerebro‐osseous‐digital syndrome: Four new cases of a lethal skeletal dysplasia—distinct from Neu‐Laxova syndrome

Cerebro‐osseous‐digital syndrome: Four new cases of a lethal skeletal dysplasia—distinct from Neu‐Laxova syndrome

Limb pterygium syndromes: A review and report of eleven patients

Further comments on the Neu‐Laxova syndrome

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