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At least 307 records · Page 17Linked to original sources
PubMed2005

Polydactyly in a boy with Smith-Magenis syndrome.

Smith-Magenis syndrome is a microdeletion syndrome involving chromosome 17p11.2. The characteristic features include mental retardation, dysmorphic facial features, minor skeletal anomalies including brachydactyly and behavioural abnormalities, such as disturbed sleep pattern, restlessness and self-destructive behaviour. We present a patient with this syndrome and with six digits on each hand. Polydactyly has not yet been described in Smith-Magenis syndrome as far as we know.

Abnormalities, Multiple↗
PubMedDate not supplied

Short rib-polydactyly syndrome: lethal chondrodysplasia associated with brain malformations in a 35-week-gestation infant.

This case report describes the neuropathological findings in an autopsy case of short rib-polydactyly syndrome (SRPS). The patient was a Japanese female neonate who was born at 35 weeks of gestation and died soon after birth due to severe cardiopulmonary insufficiency. Clinical and radiological findings were most consistent with SRPS type I (Saldino-Noonan type). General autopsy findings included situs inversus, persistent truncus arteriosus and endocardial cushion defect, hypoplastic lungs and adrenal glands, and vaginal atresia. Fixed brain weight was 330 g. Three different categories of pathological changes were detected in the brain. These were as follows: (1) multiple cyst formation in the parenchyma, (2) primary malformations of the nervous and mesenchymal tissues, and (3) deposition of an unusual substance in the cerebral white matter. The multiple cysts or cavities in the parenchyma may be due to severe hypoxic-ischemic insults related to the congenital heart anomaly. The primary malformations were summarized as follows: (1) capillary telangiectasia of the pia mater and choroid plexus, (2) olfactory dysplasia with asymmetry, (3) focal cortical dysplasia in the frontal lobe and cerebellum, (4) olivary dysplasia, and (5) enlargement of the posterior part of the lateral ventricle. Dysplastic changes of the nervous tissue can be classified into the group of neuronal migration disorders. Although biochemical properties of the unknown substance were not determined, it is considered to be some product derived from an inborn error of metabolism. Morphological data of SRPS is still scarce, and pathognomonic changes have not yet been elucidated. The present data suggests that coexistence of the nervous and mesenchymal malformations may be highly characteristic of SRPS.

Brain↗
PubMed1989

Short rib polydactyly syndrome type I: an autopsy approach to diagnosis of chondrodysplasias.

The autopsy diagnosis of neonates with chondrodysplasias is often difficult due to the rarity of many of these conditions and to a complex classification scheme. Accurate diagnosis is essential for counseling of parents with one or more affected infants. Classification is currently based on radiological appearances and gross morphology. Following examination of two siblings with short rib polydactyly syndrome (SRPS) type I, we undertook to analyze the main problems in clinical pathological classification of chondrodysplasias. The problems identified are: variability in the constellations of morphological features that are used for diagnosis; insufficient radiological data being obtained at the time of autopsy; failure to preserve tissue appropriately for the necessary studies and lack of knowledge of the underlying abnormalities in most chondrodysplastic syndromes. It is anticipated that biochemical and molecular genetic abnormalities will eventually be discovered to reduce diagnostic uncertainty in the chondrodysplasias. Presently the diagnostic process is facilitated when frozen tissue is available for studies such as collagen, proteoglycan, and enzyme analysis and mRNA and DNA analyses.

Cartilage, Articular↗
PubMed1994

Femoral hypoplasia unusual facies syndrome with preaxial polydactyly.

Preaxial polydactyly of the foot is an unusual feature in femoral hypoplasia unusual facies syndrome, having been recorded with certainty in only two previous reports. We now add a further two instances of this rare association and emphasize that this finding should not preclude the underlying syndromic diagnosis.

Abnormalities, Multiple↗
PubMedDate not supplied

[Axial polydactyly: a clinical case].

After a short review of the normal embryonal development of lower limbs the authors describe a case of polydactyly associated with a 2nd-grade hypospadias observed in a 4-month-age patient. The authors, after the surgical treatment of both defects, have made the follow-up of the patient until six year age.

Humans↗
PubMed1997

Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis.

Postaxial polydactyly type-A (PAP-A) in humans is an autosomal dominant trait characterized by an extra digit in the ulnar and/or fibular side of the upper and/or lower extremities. The extra digit is well formed and articulates with the fifth, or extra, metacarpal/metatarsal, and thus it is usually functional. In order to map the gene responsible for PAP-A, we studied a five-generation Indian family of 37 individuals (15 of whom were affected). A genomewide search with highly informative polymorphic markers on part of the pedigree showed linkage between the PAP-A phenotype and markers on chromosome 7p15-q11.23 (no crossovers were found with D7S526, D7S795, D7S528, D7S521, D7S691, D7S667, D7S478, D7S1830, D7S803, D7S801, or ELN). The highest LOD score was obtained with marker D7S801 (zeta max = 4.21; theta = 0). Haplotype analysis enabled the mapping of the PAP-A phenotype in this family between markers D7S2848 and D7S669. Analysis of additional families with PAP-A will narrow down the critical genomic region, facilitate positional cloning of the PAP-A gene, and/or uncover potential genetic heterogeneity.

Chromosome Mapping↗
PubMed1997

Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe.

We report on two cases of congenital unilateral anterolateral bowing and focal defect of the tibia associated with ipsilateral polydactyly of the great toe. Computed tomographic examination showed an unusual partial cleft of the tibia at the site of bowing. A long follow-up of one patient showed spontaneous resolution of the bowing without progression to pseudoarthrosis. These anomalies should be considered as a new entity related to the tibial developmental field.

Adolescent↗
PubMed1998

Ophthalmo-acromelic syndrome (Waardenburg) with split hand and polydactyly.

We report on a boy with anophthalmia, split hand, oligodactyly, syndactyly and polydactyly: These features are consistent with the diagnosis of the ophthalmo-acromelic syndrome (Waardenburg). However, the hand anomalies have not been reported yet. This observation helps to extend the wide range of expressivity of this rare syndrome.

Adult↗
PubMed1975

Congenital malformations. Cleft palate, congenital heart disease, absent tibiae, and polydactyly.

A girl had cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet, and abnormal dermal patterns at birth. She was born after a pregnancy complicated by exposure to multiple medications. This combination of malformations may represent a distinct entity unrelated to the medication or may be a complication of the intrauterine drug exposure.

Abnormalities, Drug-Induced↗
PubMed1980

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations.

We report on six infants with a neonatally lethal malformation syndrome of hypothalamic hamartoblastoma, postaxial polydactyly, and imperforate anus. Some, but not all, patients had laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula, hypoadrenalism, microphallus, congenital heart defect, and intrauterine growth retardation. The infants also had hypopituitarism and hypoadrenalism. All were sporadic cases, parents were not consanguineous, chromosomes were apparently normal. Family histories were unremarkable. There was insecticide and/or herbicide exposure in several of the cases, but no exposures were common to all 6 mothers. Five of the patients were born within an 8-month period, but all in different geographic locations. It is postulated that this is a previously apparently unreported syndrome of presently unknown cause.

Anus, Imperforate↗
PubMed1980

Non-Majewski short rib-polydactyly syndrome.

Clinical, radiographic, and morphologic studies of non-Majewski short rib-polydactyly cases show a spectrum of abnormalities. While the findings of Yang et al reported in this journal suggest that a unique change in chondrocytes, namely PAS-positive inclusions, might distinguish one group of patients from another, experience with 4 other cases with radiographic findings similar to the case reported by Yang and colleagues does not confirm the finding. Therefore, the full significance of their observation must await further morphologic studies of these patients. The clinical findings are extremely variable, and no feature is pathognomonic of either of the groups of patients. Similarly, the radiographic findings show a spectrum of severity. The original cases of Saldino and Noonan have a more severe ossification defect in the long bones and pelvis than any of these other cases. While genetic heterogeneity might be invoked to explain this wide spectrum of findings in these patients, at present, variability in expression in just as likely a hypothesis.

Bone Diseases, Developmental↗
PubMed1981

Minor manifestations in preaxial polydactyly type 1 and Poland complex.

We report three unrelated patients: two (patients 1 and 3) with preaxial polydactyly type 1 (PPT1), and one (patient 2) with PPT1 and Poland complex, and previously undescribed minor manifestations in the parents. The mother of patient 1 has camptodactyly with mild ulnar deviation of the distal phalanx of left thumb. The mother of patient 2 has symmetrical minor changes of both hands: mild camptodactyly of digits 4 and 5; mild clinodactyly of right 5th digit; absent or hypoplastic DIP flexion creases of digits 2, 3, 4 and 5; and tight skin around the middle phalanx of the 4th fingers. The mother of patient 3 has mild camptodactyly of the proximal phalanx of the thumbs.

Dermatoglyphics↗