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M K Nedzved

Publications and source records attributed to M K Nedzved.

9 recordsLinked to original sources
PubMed1992

Which brain defects accompany cyclopia?

We report a fetus with an association of cyclopia without proboscis, aprosencephaly and agnathia. Analysing literature cases and the case presented here we can suggest that: 1) not only alobar holoprosencephaly but also more severe forebrain anomalies can be a brain equivalent of cyclopia; 2) aprosencephaly can be viewed as the earliest known variant of prosencephalic series; and 3) "agnathia-holoprosencephaly" association is etiologically heterogeneous.

Abnormalities, Multiple↗
PubMed1979

Trisomy 8p due to the 3:1 segregation of the balanced translocation t(8;15)mat.

An additional small G-like chromosome was found in a newborn female with multiple abnormalities and hemorrhagic diathesis. G banding showed that the index patient was trisomic for the short arm of chromosome 8 and revealed the anomaly t(8;15)(q12;p11) in her mother. The relationship between chromosome 8 and multiple hemorrhages is discussed.

Abnormalities, Multiple↗
PubMed1979

Brief clinical observations: the Neu-Laxova syndrome--a distinct entity.

We report a stillborn girl with a complex syndrome of microcephaly, lissencephaly, severe subcutaneous edema, atrophic muscles, camptodactyly, syndactyly of toes and fingers, hypoplastic genitalia, and numerous structural changes of the brain and eyes. Similar cases have been reported by Neu et al [1], Laxova et al [2] and Povysilova et al [3]. The above-mentioned syndrome complex is a distinct genetic syndrome, for which we propose the eponym "the Neu-Laxova syndrome." Affected patients resemble each other strikingly and there is usually no doubt about the diagnosis. The Neu-Laxova syndrome is apparently transmitted as an autosomal recessive trait.

Abnormalities, Multiple↗
PubMed1979

Brief clinical reports: aprosencephaly-atelencephaly and the aprosencephaly (XK) syndrome.

We report on a postnatally dead, postterm male infant with aprosencephaly and the oculofacial manifestations usually seen in the most severe form of alobar holoprosencephaly -- namely cyclopia and absence of derivatives of the frontonasal process; in addition the infant had the radius aplasia field defect bilaterally, a high VSD, mobile cecum, and penile hypospadias with cryptorchidism. The same syndrome was reported recently by Garcia and Duncan [2]; however, in that case the brain defect was designated "atelencephaly." Since atelencephaly is a less severe form of aprosencephaly we chose to designate the condition in these two patients as "the aprosencephaly (XK) syndrome." Atelencephaly and aprosencephaly may occur also as a single and sporadic malformation. The cause of the aprosencephaly (XK) syndrome is unknown.

Abnormalities, Multiple↗
PubMed1978

Partial trisomy 10p in two generations.

Two cases of partial 10p trisomy due to a t(10;20)(p12;p12) in two generations of a family are presented. Analysis of 20 known cases of such aberrations confirmed the opinion of Schleiermacher et al. (1974) that partial trisomy 10p is a distinct clinically recognizable entity. The most important diagnostic features of this syndrome are dolichocephaly, prominent forehead, wide open sutures and fontanelles, broad root of the nose, cleft lip and palate, clubfoot, and cystic changes in kidneys.

Adult↗
PubMed1978

Pulmonary hypoplasia, multiple ankyloses, and camptodactyly: one syndrome or some related forms?

Four perinatally dying infants with multiple congenital malformations, including pulmonary hypoplasia, multiple ankyloses, abnormalities of the face and camptodactyly are presented. The differences both for severity of pulmonary hypoplasia and for the type of associated malformations suggest that this complex of abnormalities is not a single syndrome but a complex of related entities. These entities and some other genetical syndromes may form a "community of malformations" involving facial, skeletal (arthrogryposis, camptodactyly) and placental abnormalities.

Abnormalities, Multiple↗
PubMed1976

Further studies on the genetic heterogeneity of cebocephaly.

The detailed morphological description of 4 cases with cebocephaly, 3 of which were karotyped (one with D trisomy and 2 with normal karyotypes), are presented. Analysis of all cytogenetically studied cases with this malformation reveals that cebocephaly with a normal karyotype may result from more than one mutant gene, and so it may be accompanied by different extracranial abnormalities. On the other hand an absence of visceral malformations does not exclude chromosomal aberrations; thus 18p- syndrome, where cebocephaly is frequent, may have no visceral abnormalities.

Abnormalities, Multiple↗
PubMedDate not supplied

The pathological anatomy of the Smith-Lemli-Opitz syndrome.

Two cases of the Smith-Lemli-Opitz syndrome are described, together with the autopsy findings. In both cases, the typical appearance and visceral malformations were present. Hypoplasia of the frontal lobes and corpus callosum, and aplasia of the splenium constitute abnormalities of the brain which may be useful in the diagnosis of this disorder at autopsy. The autosomal recessive mode of inheritance of this syndrome was confirmed.

Abnormalities, Multiple↗