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PubMed1983

Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome?

Three sibs, the proband and two monozygotic twins, have a condition including mental retardation, postnatal somatic retardation, preaxial polydactyly of the feet, bifid third metacarpal, median cleft lip, fatty hamartomas on the dorsum of the tongue, conductive hearing loss, and unilateral or bilateral renal agenesis. This probably autosomal recessive syndrome could be a further example of the condition described by Váradi et al or a variant of the Mohr syndrome.

Abnormalities, Multiple↗

PubMed1986

The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs.

Three cases are reported of a lethal multiple congenital anomaly syndrome. The infants had moderate limb shortening, joint contractures, polydactyly, and the two with male karyotypes had female external genitalia. Internal anomalies included unilobular lungs, hypoplasia of the anterior portion of the tongue, and renal hypoplasia.

Abnormalities, Multiple↗

PubMed1987

Unknown syndrome: holoprosencephaly, congenital heart defects, and polydactyly.

We present a stillborn male infant with premaxillary agenesis, bilateral microphthalmos, alobar holoprosencephaly, hydrocephalus, ventricular and atrial septal defects, small penis, bilateral cryptorchidism, and bilateral upper limb postaxial polydactyly.

Abnormalities, Multiple↗

PubMed1988

Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.

An association of Hirschsprung disease with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness is described in sibs (brother and sister) of consanguineous parents. It is suggested that this might represent a new autosomal recessive syndrome.

Bone Diseases, Developmental↗

PubMed1988

Unknown syndrome: mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip.

We report a six year old male with mental retardation, postaxial polydactyly and syndactyly, atrichia congenita totalis, severe seborrhoeic dermatitis, recurrent staphylococcal skin sepsis, and Perthes' disease of the hip. His birth may have resulted from an incestuous mating.

Child↗

PubMed1989

Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient.

Young and Simpson in 1987 and Fryns and Moerman in 1988 each reported a case of a new unknown syndrome with hypothyroidism, severe global retardation, and abnormal facies, including microcephaly, blepharophimosis, bulbous nose, thin upper lip, low set ears, and micrognathia. A male infant with a similar pattern of malformations and postaxial polydactyly is reported here.

Abnormalities, Multiple↗

PubMed1990

Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome.

We report two fetuses with hydrocephalus, features of holoprosencephaly, and postaxial polydactyly born to a consanguineous Mexican-American couple. The phenotype is consistent with the hydrolethalus syndrome, although holoprosencephaly has not previously been seen in this condition. We believe other similar cases with a trisomy 13 phenotype but normal chromosomes may also have the hydrolethalus syndrome.

Abnormalities, Multiple↗

PubMed1990

Another case of microcephaly, facial clefting, and preaxial polydactyly.

We describe a nine month old boy with failure to thrive, developmental delay, bilateral cleft lip and palate, and left preaxial polydactyly. The features are similar to those in a child described by Howard and Young and may be the second case of a previously unknown syndrome.

Abnormalities, Multiple↗

PubMed1991

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism (Smith-Lemli-Opitz syndrome type II) and hydrolethalus syndrome is discussed. Recessive inheritance seems likely.

Abnormalities, Multiple↗

PubMed1982

Joubert-Boltshauser syndrome with polydactyly in siblings.

Two siblings are described with clinical features of the Joubert-Boltshauser syndrome. Both had polydactyly and one had fleshy tumours of the tongue. Computed tomography of the brain showed hypoplasia of the cerebellar vermis, associated in one case with a cyst of the fourth ventricle.

Apnea↗

PubMed1982

Lethal short-rib polydactyly syndrome of the Majewski type: a report of three cases.

Three cases of lethal short-rib polydactyly syndrome of the Majewski type are presented. All three cases were the products of first-cousin marriages. Two of the cases were siblings; three more of their siblings also showed signs of this abnormality but their cases were incompletely documented. The three reported cases are compared with five fully documented cases that have been presented by other authors.

Abnormalities, Multiple↗

PubMed1992

Doubled nail of the thumb. A rare form of polydactyly.

Bifid thumb is a rare manifestation of polydactyly. The trait is autosomal dominant, but the expressivity is highly variable. It must be distinguished from apical dystrophy, a rare form of brachydactyly. Severe surgical procedures have been suggested for both functional and cosmetic reasons. Two families affected are described.

Adult↗

PubMed1983

Five-fingered hand associated with partial or complete tibial absence and pre-axial polydactyly. A kindred of 15 affected individuals in five generations.

A kindred of 15 affected individuals in five generations is described with autosomal dominant inheritance of bilateral five-fingered hand. Some of them had additional pre-axial polydactyly of the fingers or toes and some had partial or complete absence of the tibia. The range of expression of the gene is variable and genetic advice to these families must take account of the whole spectrum of defects. The function of both upper and lower limbs was improved by surgery. A distinction is drawn between the five-fingered hand shown in this family and the different deformity of a four-fingered hand with a triphalangeal thumb.

Abnormalities, Multiple↗

PubMed1992

Anatomical study of preaxial polydactyly in 158 hands.

Preaxial polydactyly is a common congenital hand anomaly. Here in 138 patients with 158 duplicated thumbs, a new classification of this anomaly was done from analysis of radiographs and operation records. Initially all the duplicated thumbs were arranged into from Type I to VII on the basis of radiological extent of bifurcation. Appendage type was noted as a separate entity. Type IV was found the most common and had 53 thumbs (33.6%) involved. But findings on surgery indicated that the exact level of bifurcation varied in each type, and Type VII became three times as frequent as previously noted from x-ray examination at the time of surgery. Radiologically encountered duplications at IP (Type II), MP (Type IV) and CM (Type VI) joints were specifically classified into five groups from A to E on the basis of the structural changes detected on surgery. Details in each group were discussed.

Female↗

PubMed1992

Dysmorphology report: on the association of microcephaly and preaxial polydactyly. Another example of Howard-Young syndrome.

We present a 5-year-old boy with developmental delay, severe microcephaly and preaxial polydactyly. These features are very similar to those previously described by Howard and Young (1) in their princeps report.

Child↗

PubMed1992

Treatment of preaxial polydactyly.

Preaxial polydactyly is the result of aberrant bifurcation of the embryonic preaxial anlage. Effective reconstruction of thumb duplication requires careful evaluation of all components. Skin, nail, bone, ligament, and musculoskeletal elements must be combined to reconstruct an optimal digit.

Hand Deformities, Congenital↗

PubMed1991

[Polydactyly].

Polydactyly is one of the hand's most frequent congenital deformities. Classification of this deformity distinguishes radial or thumb duplication, central duplication that is almost constantly associated with syndactyly (called polysyndactyly) and ulnar duplication. The latter is important especially in caucasian people because it can be part of a syndrome. Surgical techniques are briefly mentioned for the different forms.

Fingers↗

PubMed1976

Hallux syndactyly--ulnar polydactyly--abnormal ear lobes: a new syndrome.

A new syndrome is described. Its distinguishing features are hallux syndactyly, ulnar polydactyly and abnormal earlobes with other roentgenographic abnormalities along the medial border of the foot. It is inherited as an autosomal dominant.

Abnormalities, Multiple↗