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PubMed1984

[Greig's syndrome. Neonatal radiologic manifestations].

A newborn infant with postaxial polydactyly of the hands, preaxial polydactyly of the feet, syndactyly and craniofacial dysmorphism (Greig's Syndrome) is reported. The radiographic manifestations in the neonatal period are described. The advanced bone age, the unusual shape of the iliac bones and the supernumerary prehallux toe are new radiological findings in Greig's Syndrome at this age. The diffuse distribution of skeletal anomalies suggests a more complex problem of the intrauterine process of ossification.

Abnormalities, Multiple↗
PubMed1984

Bardet-Biedl syndrome.

The Bardet-Biedl syndrome is characterized by five main features: obesity, polydactyly, pigmentary retinopathy, mental deficiency and hypogonadism; recently a sixth feature, renal disease, has been described. It was formerly known as the Laurence-Moon-Biedl syndrome, but Laurence and Moon described a different entity in which the main feature was paraplegia. Fourteen cases have been seen: all had pigmentary retinopathy which, in most cases, was severe and tended to affect central vision early in life. All had subnormal intelligence, twelve were obese, ten had polydactyly, eight hypogonadism, and two had renal disease. The condition was thought to be rare, but this may have been due to the failure to diagnose incomplete or partial cases. It is suggested that the prevalence is 1:160 000 of the population.

Child↗
PubMed1984

[Kaufmann syndrome or VACTERL association? Discussion of a differential diagnosis].

The authors describe a dysmature female newborn, with multiple birth defects, who died soon after birth. At first polydactyly and hydrometrocolpos let think of a Kaufman syndrome, with autosomal recessive inheritance. But due to the presence of other malformations and since polydactyly is preaxial, the whole clinical and anatomical picture may be put into the frame of VACTERL association, mainly sporadic. Thus seemingly hydrometrocolpos and urogenital sinus have to be added, although rarely, to the other known defects of the VACTERL association.

Abnormalities, Multiple↗
PubMed1981

The extra digit. A pointer to the eye?

The syndrome associated with an extra digit which is commonly seen by the ophthalmologist is that of Laurence-Moon-Biedl, with its well-known association with retinal dystrophy. However, there are several other syndromes in which there is polydactyly and an ocular malformation. Many have colobomata and microphthalmos. Other syndromes show various orbital and eyelid abnormalities, such as ptosis, hypertelorism, and lateral displacement of the canthi. In three syndromes other than the Laurence-Moon-Biedl there is a retinal dystrophy. In Trisomy 13 there is a severe retinal dysplasia, and in Bloom's syndrome excrescences on Bruch's membrane have been described. There have been several cases of asphyxiating thoracic dystrophy (Jeune's syndrome) described with a retinal dystrophy, and we present a case of the closely-related Ellis-van Creveld syndrome with a retinal dystrophy. We also present a case with a chromosomal defect (an addition to the short arm of chromosome 2), polydactyly, and a retinal dystrophy.

Abnormalities, Multiple↗
PubMed1982

[McKusick-Kaufman syndrome in a new born girl (author's transl)].

In a newborn, the presence of an abdominal tumor due to hydrocolpos resulting from vaginal atresia, with polydactyly and a congenital heart disease suggest the diagnosis of McKusick-Kaufman syndrome. This syndrome is different from the Ellis Van Creveld syndrome, which also includes polydactyly and congenital heart disease, associated with "chondrodysplasia' and "ectodermodysplasia'.

Abnormalities, Multiple↗
PubMed1980

Hydrometrocolpos in Kaufman syndrome.

A newborn infant presented with a large abdominal mass, urinary retention and postaxial polyaxial polydactyly. On the basis of intial information from the attending physician, this was at first thought to be a grossly distended bladder, whereas in fact it was a hydrocolpos. The association of hydrometrocolos and postaxial polydactyly is known as Kaufman syndrome.

Abnormalities, Multiple↗
PubMed1981

Ultrasonographic parameters in the prenatal diagnosis of Meckel syndrome.

The ability to make a prenatal diagnosis of Meckel syndrome (encephalocele, polydactyly, and polycystic kidney) by ultrasound is described. Three cases are detailed; in 2 of these the diagnosis was made at 18 and 36 weeks' gestation, respectively. In case 1 Meckel syndrome was identified by the presence of oligohydramnios, microcephaly, and enlarged cerebral ventricles. In case 2 oligohydramnios was associated with an encephalocele, bilateral renal enlargement, and a polydactyly. In case 3 the diagnosis was excluded in a fetus at risk. The usefulness of ultrasound in making this diagnosis is discussed for cases in which the amniotic fluid alpha-fetoprotein value is normal, inconclusive, or unobtainable.

Abnormalities, Multiple↗
PubMed1994

[An experimental study on congenital foot deformity--with reference to a local disturbance in the limb bud using the exo utero survival method].

Experimental studies on abnormal developments in mammalian embryos have been limited by an inaccessibility to the embryo for surgical manipulations. Here we have developed the exo utero survival method proposed by Muneoka et al. in 1986 to produce models of various hindlimb anomalies by cauterizing a portion of the hindlimb bud of the mouse embryo. A total of 500 mice were used. The treatment was performed on time-pregnant JCL/ICR mice at 10.5 to 12.5 days of gestation (plug day = day 0). Polydactyly occurred in the group treated with pre-axial cauterization at 10.5 to 11.0 days of gestation, and oligodactyly at 10.5 to 12.5 days of gestation. A same insult resulted in different deformities depending on the time of cauterization. Immediately after the cauterization, there was a cloudy area in the limb bud, but at 15 minutes to one hour later, it developed into a necrotic focus surrounded by hemorrhaging and hematoma. The duration of the existence of this hematoma was various. The hematoma occurred just beneath the mesenchymal tissue in the peripheral venous sinus and moved proximally at 24 to 48 hours after the cauterization, in the group treated after 11.5 days of gestation (not seen in the 12.5 days group). This fact was considered to support the progress zone and positional value theory proposed by Summerbell et al. in 1973. From this study, it was concluded that the occurrence of foot deformities such as polydactyly, oligodactyly and cleft foot would have been determined by the site, severity and time of the local insult as well as by the recoverability of the mesenchymal tissue.

Animals↗
PubMed1997

[Eleven years of registration of congenital anomalies in Croatia associated with the EUROCAT international project].

Results of the eleven-year registration of congenital anomalies in Croatia are presented. Zagreb Registry as a part of international EUROCAT (European Registration of Congenital Anomalies) project covers four regional centers (Varazdin Rijeka, Pula and Koprivnica). The ascertainment, calculation of prevalence rates and statistical methods are based on EUROCAT method of investigation. Mean prevalence rate of 18.86/1000 births (1228 children with congenital anomalies per 65,100 births) was registered in the 1983-1993 period. The most frequently registered anomalies were congenital heart diseases, a heterogenous group of limb defects, oral clefts, central nervous system anomalies and chromosomal aberrations. The most frequent structural anomalies expressed as rates per 1000 births are ventricular septal defect (1.8), cleft lip +/- palate (1.1), atrial septal defect (0.8) polydactyly (0.8) and limb reduction defects (0.5). Statistical analysis shows a fluctuation of Down's syndrome prevalence rates during the monitored period. Statistically significant differences (p < 0.01) in prevalence rates among four regions of Croatia were established. The prevalence rates of marker anomalies (Down's syndrome, polydactyly, oral clefts) are tenfold higher compared to routine statistical data of Republic of Croatia. Acquired experience, collaboration and results obtained in this project represent a good basis for more rational planning of medical care and further investigation of this significant medical and public health problem.

Congenital Abnormalities↗
PubMed1997

Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome.

We present a 17-month-old boy with the acrocallosal syndrome. He was born to consanguineous parents. Abnormal findings included agenesis of the corpus callosum, a ventricular septal defect (VSD), postaxial polydactyly of fingers, cleft soft palate, intestinal malrotation, large anterior fontanelle, prominent forehead, hypertelorism, epicanthic folds, short nose and mandible and preauricular skin tags, mixed hearing loss, laryngomalacia, and growth and severe motor and mental retardation. A review of previous reports on the acrocallosal syndrome shows considerable clinical variability; minimal diagnostic criteria are proposed. A developmental field defect with disturbance of midline development is suggested.

Abnormalities, Multiple↗
PubMed1999

Skeletal malformations in fetuses with Meckel syndrome.

In six fetuses with Meckel syndrome (gestational age 16-23 weeks, crown-rump length 130-170 mm) the skeleton was examined as part of the autopsy procedure using whole body radiography and special radiographic techniques. In the upper and lower limbs we found similar types of polydactyly. We noted four types, based on the number and morphology of metacarpals and metatarsals. In the individual fetus there was more often similarity in the pattern of malformation in the two hands or in the two feet than there was between the pattern of malformation seen in the hands and that seen in the feet. Only one foot was normal. Malformations of the cranial base (the basilar part of the occipital bone or the postsphenoid bone) occurred in five cases, and the vertebral bodies in the lumbar region of the spine were malformed (cleft) in three cases. It is proposed that a skeletal analysis be included in the future evaluation of phenotypes in Meckel syndrome.

Abnormalities, Multiple↗
PubMed1998

Expression profile of Gli family members and Shh in normal and mutant mouse limb development.

Gli genes represent a small family, encoding zinc-finger proteins of the Krüppel-type. The family consists of Gli(1), Gli2, and Gli3, all of which are expressed in the developing mouse limb bud. To assess the role of the Gli family and Sonic hedgehog (Shh) in mouse limb development, we compared the expression domains of all three Gli genes and of Shh. Although each Gli gene has its own distinct expression pattern in limb buds, at 10.5-11.5 dpc all three genes were found not to be expressed in the posterior region, the presumptive Shh expression domain. This transient mutually exclusive expression suggested a potential interaction between Gli genes and Shh. To address this matter, we analysed the expression of Gli genes and Shh in two polydactyly mouse mutants, Extra toes (Xt) and Hemimelic-extra toes (Hx) which express Shh ectopically in the anterior region of the limb field. Since Xt mice lack Gli3 expression, the ectopic Shh expression is genetically linked to the absence of Gli3. In Hx mice we found a down-regulation of Gli3 in the anterior region of the limb bud. In both mutants Gli2 expression pattern was not altered, whereas Gli1 expression was anteriorly up-regulated adjacent to the ectopic Shh domain. These results strongly suggest a positive regulation of Gli1 by Shh and a negative interaction between Shh and Gli3.

Animals↗
PubMed1999

Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation.

It has been postulated that the deletion of band 13q22 may be associated with digital malformations, especially thumb and big toe anomalies. We report a family where the mother is carrying a balanced translocation between chromosomes 5p15 and 13q22. The offspring have a specific and well-defined phenotype depending on which is the unbalanced chromosome in the karyotype. When a partial trisomy of 13q22-->qter is present, the fetuses have polydactyly in the four limbs, and when the fetus is carrying a partial monosomy of this portion, an oligodactyly in all members can be observed.

Chromosome Segregation↗
PubMed1996

Analysis of limb patterning in BMP-7-deficient mice.

Bone morphogenetic proteins (BMPs) are polypeptide signaling molecules, belonging to the TGF-beta superfamily. They were originally identified by their ability to induce ectopic bone formation, but their expression patterns in embryos suggest multiple functions. BMP-7-deficient mice show among other mesodermal and skeletal patterning defects, polydactyly in the hindlimbs [Luo G, Hofmann C, Bronckers ALJJ, Sohocki M, Bradley A, Karsenty G (1995): Genes Dev 9:2808-2820; Dudley AT, Lyons KM, Robertson EJ (1995): Genes Dev 9:2795-2807]. Here we report a more detailed analysis of the limb phenotype in BMP-7-deficient mice using in situ hybridization to monitor expression of molecules implicated in patterning processes of the developing vertebrate limb. In previous studies we showed that Sonic hedgehog (Shh) was expressed normally, but Hoxd-13 expression in limb mesenchyme was lower in BMP-7 mutant limbs. Here we show that Hoxd-11 expression domains are also contracted and decreased in intensity in mutant limbs, suggesting that 5' genes of the Hoxd cluster are coordinately downregulated, while another Bmp, Bmp-2, which can be activated by Shh, is similarly expressed. The mutant limb buds are broader than normal buds, and fibroblast growth factor Fgf-8 is expressed throughout the extended ridge. However, expression of the homeobox gene Msx-1, which has been shown to be involved in epithelial-mesenchymal interactions during limb development, was decreased in the mesenchyme of BMP-7 mutant limbs. Taken together, our data suggest that BMP-7 is involved in regulating proliferation and/or epithelial-mesenchymal interactions in the developing limb.

Animals↗
PubMed2000

Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family.

We report on a Thai man who had triphalangeal thumb-polysyndactyly syndrome (TPTPS, MIM *190605) and his daughter who had tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS, MIM *188770). The father had polysyndactyly of triphalangeal thumbs, syndactyly of fingers, duplicated distal phalanx of the left great toe, brachymesophalangy of toes, and the absence of middle phalanges of some toes. He was diagnosed as having TPTPS. His daughter was more severely affected, having complete syndactyly of five-fingered hands in rosebud fashion (Haas-type syndactyly), hypoplastic tibiae, absent patellae, thick and displaced fibulae, preaxial polysyndactyly of triphalangeal toes, and cutaneous syndactyly of some toes, the manifestations being consistent with THPTTS. Having two different syndromes in the same family suggests that they are actually the same disorder. A literature survey showed that there have been several families where THPTTS occurred with TPTPS or Haas-type syndactyly (and/or preaxial polydactyly type 2, PPD2). In addition, all loci for TPTPS, THPTTS, and PPD2 (and/or PPD3) have been assigned to chromosome band 7q36. These findings support our conclusion that TPTPS, PPD2 (and/or PPD3), and Haas-type syndactyly are a single genetic en-tity (THPTTS). We propose to call the condition "tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome."

Adult↗
PubMed2001

Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome.

Pallister-Hall syndrome is a disorder of development consisting of hypothalamic hamartoma, pituitary dysfunction, central polydactyly and visceral malformations. This disorder is inherited as an autosomal dominant trait and is caused by mutations of the GLI3 gene encoding a zinc finger transcription factor. We describe a case of Pallister-Hall syndrome with growth hormone neurosecretory dysfunction, successfully treated with growth hormone until attainment of final height. We conclude that children with Pallister-Hall syndrome and short stature be evaluated carefully for spontaneous somatotropic function and, if necessary, treated with growth hormone.

Abnormalities, Multiple↗
PubMed2002

Spectrum of the acrocallosal syndrome.

Acrocallosal syndrome (ACS) is an autosomal recessive condition, characterized by agenesis of the corpus callosum, pre- and postaxial polydactyly, minor craniofacial anomalies, and, in most patients, severe psychomotor retardation. We here report on three patients with ACS demonstrating a spectrum from mild to severe involvement. Two patients had only mild to moderate mental retardation at the age of 2(1/2) and 4 years, respectively, with surprisingly good speech development. The third patient was severely affected and died at age 7 days because of persistent apnea. All three patients had agenesis of the corpus callosum, and large intracranial cysts, which in the third case was confirmed as a large arachnoid cyst at autopsy. Cranial cysts were also seen in 10/34 published cases of ACS. Thus, intracerebral cysts are a common finding in ACS and may serve in differentiating ACS from Greig cephalopolysyndactyly syndrome.

Abnormalities, Multiple↗
PubMed1991

Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome.

We report on an infant girl with hydrops, macrocephaly, high forehead, flat face, hypertelorism, broad nasal bridge, median cleft lip and alveolar ridge, grooved palate, accessory frenula, small tongue, milia, severe rib and limb shortness, brachydactyly, talipes equinovarus, Dandy-Walker malformation, accessory spleen, unfixed mesentery, ectopic pancreas, and renal cysts. This patient resembles seven previously reported patients with the Beemer-Langer syndrome, a distinct lethal short rib syndrome characterized by hydrops, markedly short ribs and limbs, median cleft lip with or without cleft palate, flat face, and macrocephaly. Polydactyly is usually absent. Our patient's oral anomalies suggest an orofaciodigital syndrome, but the severe rib and limb shortness distinguish it from those disorders.

Adult↗