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PubMed2003

Klippel-Feil syndrome plus atretic meningocele in one identical twin and anencephaly in the other.

Klippel-Feil syndrome (KFS) is a heterogeneous entity, characterized by specific congenital anomalies of segmentation of the cervical spine. We report a case of KFS plus atretic meningocele in one identical twin and anencephaly in the other. These identical twins were both male with no chromosome defect. One of them had anencephaly diagnosed at the gestational age of 17 weeks and died soon after birth, whereas the co-twin had KFS with multiple congenital anomalies including short neck with low hairline, occipital atretic meningocele, butterfly vertebrae, hemivertebrae, cervico-thoracic scoliosis, left thumb preaxial polydactyly, and right undescended testis. He received rehabilitation during infancy and could walk at the age of 15 months. Both of these infants had preaxial polydactyly, which is an uncommon anomaly associated with KFS. In conclusion, iniencephaly and anencephaly are probably the extreme manifestations of KFS rather than different dysraphisms. Prompt clinical suspicion with early diagnostic imaging for spine lesions and occult opening of neural tube is mandatory for further intervention and rehabilitation.

Adult↗
PubMed2003

Expanding the phenotypic spectrum of the Baller-Gerold syndrome.

We report on two sisters off-spring of healthy consanguineous parents, where their major clinical features absent thumb, radial aplasia and craniosynostosis led to a diagnosis of Baller-Gerold syndrome BGS (OMIM:218600). Syndromes with associated preaxial reduction defects mainly Fanconi pancytopenia, VATER association, Rothmund-Thompson and Roberts phocomelia syndrome were excluded by proper clinical and cytogenetic studies. In addition to craniosynostosis and radial deficiency, our studied cases had absent or hypoplastic thumbs, postaxial polydactyly in the left foot, genital anomalies and orodental manifestations. Review of the literature depicted phenotypic variability of BGS. The presence of affected sibs the offspring of consanguineous parents confirms autosomal recessive inheritance. The observation of associated postaxial polydactyly, blue sclera, rotatory nystagmus, other skeletal and orodental anomalies broadened the spectrum of phenotypic variability. Awareness of the expanded phenotypic spectrum will improve the diagnosis and genetic counseling of BGS.

Abnormalities, Multiple↗
PubMedDate not supplied

Meckel-gruber syndrome associated with gastrointestinal tractus anomaly.

Meckel-Gruber syndrome (MGS) is rare autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and polycystic kidneys. A one-day-old girl was admitted to our clinic with occipital encephalocele, polydactyly, ulnar deviation of left hand and failure to thrive. Patient's parents were first-degree relatives. It was learned that the patient's two sisters had died from similar anomalies. In our case, prenatal sonographic examination revealed oligohydramnios and hydrocephaly in the 33rd week of gestation. At birth her weight was 2200 g. Both physical and radiological examinations diagnosed MGS. Cranial computed tomography (CT) showed agenesis of cerebellar vermis and corpus callosum, and cystic dilatation of the 4th ventricle and lateral ventricles. The case died due to severe respiratory distress in the Intensive Care Unit on day 38. In the postmortem examination, longitudinally located intestine-like stomach was determined without a fundus. In conclusion, intestinal malrotation and hepatic portal fibrosis have been reported in MGS in the literature. In this case, a longitudinally located intestine-like stomach in MGS is reported for the first time. No such association to our knowledge has been previously reported.

Abnormalities, Multiple↗
PubMed1992

Teratogenicity testing based on the interaction with a mutant allele.

The system of congenic strains of the laboratory rat carrying the mutant allele lx which is determining the polydactyly-luxate syndrome (PLS) was used for testing teratogenicity of six compounds from different pharmacological groups (cyclophosphamide, cyadox, carbadox, imipramine, verapamil, TIA). The interaction of the mutant lx allele with cyclophosphamide was highly significant (P less than 0.001) involving both polydactyly and tibial hemimely. Significant interaction with the lx allele was also proved after cyadox and carbadox treatment when compared with lx allele penetrance in LEW/BN, +/1x heterozygotes (P less than 0.01 and 0.05). In accord with our previous experiments, the teratogenic activity of the compounds tested seems to be connected with the ability to interact with nucleic acid structure and/or function.

Abnormalities, Drug-Induced↗
PubMed1990

[Etiopathogenesis and type of congenital malformations observed in Kinshasa (Zaïre)].

The authors report on 115 malformed newborns, who are compared with 120 normal newborns from October 1985 up to September 1986 at the University Clinics of Kinshasa, Zaïre. There were 4,422 deliveries with 4,465 newborns, of whom 173 died during the perinatal period. The main results are: 1) the incidence of congenital defects is 2.5% births: a rate which is within the limits described by other authors: 2) polydactyly is the most frequent malformation; 3) two rare malformations were diagnosed: (1) a case of Arnold Chiari syndrome associated with polydactyly and (2) a case of temporal meningo-encephalocele; (4) factors for high risks of malformation are: advanced maternal age older than 35 years, consanguinity, a family history of birth defect and of stillbirths; 5) the diagnosis of even major congenital malformations is made macroscopically at birth in 95% because of lack of adequate instruments for antenatal diagnosis and the refusal of autopsy by the population (97%). For religious or mystical reasons, it is difficult to obtain a family's consent to perform autopsy in Kinshasa: people are convinced that life continues after death. So that a dead person needs the corporal integrity of his being.

Attitude to Health↗
PubMedDate not supplied

[Congenital cardiopathies and associated bone abnormalities].

The study included six infants and one adult of congenital cardiovascular anomalies and malformations of the osseum system. In three cases with family pedigree studied, an autosomal dominant character was found; all of them had interauricular defect septum and characteristic congenital deformities of the thumb with polydactyly and one with affection in upper and lower extremities. In the other four patients without family study, interauricular septal defect and transposition of vessels was proved; the osseum malformations were radium agenesia, polydactyly and thumb agenesia. The importance of the genes and the environmental participation and etiopathogenic mechanism are discussed. The prognostic is focussed within type and severity of the congenital cardiac defect; in this study, two infants died within 3 and 7 months of heart failure. These congenital malformations were proved to have autosomal dominant inheritance; we recommend the familial study in all these cases.

Abnormalities, Multiple↗
PubMed1990

[The acrocallosal syndrome. Report of an additional case].

The acrocallosal syndrome is a rare congenital malformation syndrome with the main findings: agenesis of the corpus callosum, craniofacial dysmorphisms, mental retardation, polydactyly of the hands and/or feet. We report a patient with partial agenesis of the corpus callosum, dolichocephalus, broad and short nose, low-set and posteriorly rotated ears, pre- and postaxial polydactyly of feet, duplication with syndactyly of big toes, and postaxial hexadactyly of the left hand. Differential diagnosis and the genetic counseling are discussed.

Abnormalities, Multiple↗
PubMed1990

Cleft hand.

Definition, incidence, genetics, and etiology of typical cleft hand are discussed in this paper. Cleft hand, central polydactyly, and osseous syndactyly were induced experimentally when the same teratogenic factors acted on the embryos at the same developmental stage. Typical cleft hand, central polydactyly, and syndactyly should be classified together as manifestations of the same entity, that is, failure of induction of finger rays. Typical cleft hand may be further subdivided into five types on the basis of the number of defective finger rays. Treatment of the typical cleft hand involves cosmetic and functional considerations. Reduction of the wide interdigital space is performed primarily for cosmetic reasons, while separation of syndactyly between thumb and index finger and correction of deviation of the thumb is performed for functional improvement. A zigzag incision with a small triangular flap is recommended for reduction of the interdigital space. If metacarpal remnants or cross bones prevent drawing the metacarpals together, they should be removed. The deep transverse metacarpal ligament should be reconstructed by ligamentous flap made out of the flexor tendon sheaths of the index and ring fingers to prevent later spreading of the fingers. A dorsal-based rotation flap fashioned from the skin of the cleft is recommended for the treatment of cleft hand with partial syndactyly of the thumb and index finger. Deviation of the thumb is often caused by a delta phalanx by a trapezoidal-shaped extra phalanx. Deviation of the thumb is corrected by removing the delta phalanx or osteotomy of the trapezoidal phalanx. When the cleft is closed at approximately 1 year of age, spontaneous correction of the flexion deformity of the ring finger is sometimes observed.

Hand Deformities, Congenital↗
PubMed1990

Cleft feet. Proposals for a new classification based on roentgenographic morphology.

The authors studied 45 cleft feet from among their patients and 128 from the literature with regard to their roentgenographic morphology. An increasing degree of malformation was found, from deepening of a central interdigital commissure to a monodactylous cleft foot. These observations resulted in a classification of six groups based on the number of metatarsal bones. Types I and II are cleft feet with minor deficiencies, both having five metatarsals. The metatarsals are all normal in Type I and partially hypoplastic in Type II. As the degree of malformation increases, only four metatarsals in Type III, three metatarsals in Type IV, and two metatarsals in Type V can be identified. Type VI represents the monodactylous cleft foot. Of the 173 feet studied, 166 could be assigned to one of these types. Two additional forms were also found: four cleft feet with central polydactyly are described as polydactylous type, and three monodactylous feet with lower-leg diastasis or tibial aplasia or both are described as diastatic type. According to the distribution of syndactylies, synostoses, and aplasias, it became evident that cleft formation begins at the second or third ray. It then proceeds in a longitudinal direction from distal to proximal as well as in a transverse direction from tibial to fibular, while the first ray remains intact. The first ray is only missing in the monodactylous cleft foot, which possesses only the fifth ray. The defects are always larger distally than proximally. Synostoses are found only at the margin of the cleft. Cross-bones are rare and usually occur in mild cases of the deformity. Another rare feature is polydactyly.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1989

Patterns of physiological cell death and mitoses in the apical ectodermal ridge in normodactylous and polydactylous rat limb buds. A quantitative evaluation.

Limb buds in normally developing foetal rats and rats with the polydactyly-luxate syndrome at day 14 and 15 of intrauterine growth were studied at the optical and electron microscopic levels. Four sets of limb buds were collected and evaluated: 14th e.d.N., 14th e.d.P., 15th e.d.N., and 15th e.d.P. (e.d. embryonic day, N - normodactylous, P - polydactylous); they were studied for apical ectodermal ridge development with reference to the rates of cell death and mitosis. Both phenomena were evaluated quantitatively. A significant difference was found in the rate of physiological cell death, which was far lower in polydactylous (4.33 and 28.73) as compared with normodactylous individuals (62.40 and 82.11 cell deaths per 300 cells in the ridge on days 14 and 15). The difference found documents a considerable retardation in cell death rate in the polydactylous apical ectodermal ridge epithelium. Physiological cell death is associated with a process called apoptosis, which is characterized by the presence of "apoptotic bodies" in the cytoplasm of epithelial cells and in the intercellular space. The total number of mitoses in the ridge epithelium was relatively low (4.63 - 6.33 per 300 cells) and the differences between norm and polydactyly were not statistically significant.

Animals↗
PubMedDate not supplied

[Type-II orofaciodigital syndrome. Description of a case].

There are at least four different types of Oro-facial-digital syndromes. The features of type II are bilateral polydactyly of hands, peculiar face with normal skin, hair, and intelligence. It is due to an autosomal recessive gene. We report a case of Oro-facio-digital syndrome in a four year old girl with a peculiar face and polydactyly of hand and feet, born from normal non consanguineous parents. Her mother was pregnant at the time of observation and came for an evaluation of the recurrence risk. The pregnancy was monitored by ultrasonography.

Abnormalities, Multiple↗
PubMed1985

Management of thumb duplication.

Radial polydactyly, a common congenital problem, most often occurs as thumb duplication. It appears in pentadactylous, polydactylous, and hypoplastic hands and is simulated by complex syndactyly. Classically, there are three categories for radial polydactyly: severe hypoplasia, partial duplication, and total duplication (easily confused with pseudoduplication). The common second category is subcategorized by Wassel's seven types. Management techniques vary with these classifications. Until a decade ago, the standard recommendation was simple excision of one of the duplicates. Problems of deformity, instability, and weakness became apparent, and reconstructive options were developed. Review of a series of 54 duplicate thumbs, all surgically treated, reflects the changing pattern of reconstruction. With current techniques, good results are usual, although secondary reconstructive procedures may be required. Simple excision is seldom indicated. Combination procedures, involving core tissues of bone, joint, and tendon or peripheral tissues--neurovascular, subcutaneous, and skin--or sometimes all of these, are preferred for reconstruction. The major current problem is to achieve the maximal good result with a minimal number of surgical operations.

Arthrodesis↗
PubMed1986

[Morphology and classification of cleft hands].

It is the intention of this study to present a more profound investigation of the morphology of cleft hands and to provide a new classification based on the results of that investigation. After a short review of the literature, which shows the different opinions regarding heredity, pathogenesis and classification of cleft hand, the authors demonstrate their own patients with 35 cleft hands: The deformities were mostly bilateral and associated with cleft feet. In unilateral cases the right side was more common. Males were in the majority. This paper puts emphasis on the analysis of X-ray morphology. The authors are able to demonstrate that the cleft hand shows several peculiarities which have not been yet sufficiently respected. It was found out, that, apart from aplasia of the bones and soft tissue, synostosis is often the origin of clefting. In 40% of our cases the cleft was caused exclusively by synostosis, in a further 34% it derived partly from synostosis of the phalanges and the metacarpal bones. In the carpus we found osseous deformities surprisingly often, a feature which has hardly been mentioned in former studies. Among the numerous associated malformations emphasis must be placed on the osseous syndactylies and the central polydactylies, because they are closely related to the cleft hand as shown by Ogino. 18 of our own cases belong to this group. Our investigations lead us to the following classification: Cleft hand type 1: Cleft hands with osseous defects (aplasias) Cleft hand type 2: Cleft hands with synostosis Cleft hand type 3: Cleft hands with aplasias and synostosis Hands with central polydactyly and synostosis as preforms of the cleft hand could be classified in type 4. These phenomena form the beginning of the teratological row towards the completely developed cleft hand. In combination with Blauth's distribution of cleft hands, who distinguished the median and medio-lateral form (1976, 1978) this new classification enables each cleft hand to be placed into one of the different types, which are analysed: Type 1 mostly shows a medio-lateral form, is always combined with cleft feet and shows heredity in 50% of the cases. It cannot be classified by the Ogino method. Type 2 mostly shows a median form, is not frequently combined with cleft feet, heredity occurs in one third of the cases. This type can very often be classified by the Ogino method. Type 3 varies from case to case because of the different items of defects.(ABSTRACT TRUNCATED AT 400 WORDS)

Adult↗
PubMed1977

Limb anomalies in chromosomal aberrations.

This survey shows that there are at least 6 autosomal and 2 gonosomal aberrations which may produce specific types of limb anomaly in 30%-80% of cases. The "expressivity" of these anomalies covers a wide range within the morphogenetic pattern. No entirely specific malformation type is seen. The most unusual malformation, aplasia of the thumbs with proximal synostosis of the 4th aand 5th metacarpals, is seen in 13q- (13r) but the precise cytogenetic basis is not clear. Aplasia of the thumb associated with synostosis of the 4th and 5th metacarpals was occasionally described before (unilateral [105], bilateral [106] while synostosis only (V or Y shaped) may be due to a dominant [107] or an X-linked recessive gene [108]. Reduction malformations limited to radial heminelia have been noted in 4q- (4r) and in trisomy 18. Although the number of cases is still small the pattern is similar to that of thalidomide embryopathy, radial hemimelia (AD, 17910), cardiodigital syndromes (AD, 14290), and even Fanconi panmyelopathy (AR, 22790). It ranges from hypoplasia of the thenar muscles and thumb to pseudophocomelia which should be clearly distinguished from phocomelia because of the absence of the thumb and frequently of the 2nd and 3rd fingers. Nothing has to be added to the teratologic series published by Müller [58] and, more recently, Willert and Henkel [109], but the distribution of the various manifestations may diverge. Asymmetry in 4q- (4r) is noteworthy. Postaxial polydactyly which is noted in trisomy 13 and trisomy of the terminal portions of the long arm of No. 13 is as variable in distribution and morphology as is observed in families in which the gene (AD, 17420) is transmitted. The question cannot yet be answered whether infrequent anomalies of the limbs which do not fit into the morphologic pattern of these types, eg postaxial polydactyly in + 18 or absence of the radius in + 13 are random. Syndactyly of the 3rd and 4th but also of other digits is a frequent but variable anomaly in triploidy. It is very similar to hereditary zygodactyly (AD, 18590). Peripheral hypoplasia of several digits accompanied by onychodysplasia seems to be a frequent anomaly in 9p+ syndrome. It is similar to that seen in a syndrome with mental deficiency, peculiar facies, and stunted growth [110] in which no chromosomal aberration has been found up to the present. Dysostoses have been frequently noted in gonosomal aberations. Brachymetopodia in XO females maybe confused with pseudo-pseudohypoparathyroidism (XR, 30080) or brachydactyly type E (AD, 11330) when only the lateral metacarpals and/or metatarsals are shortened. However, further studies are needed in order to delineate these syndromes on the basis of different frequencies and radiologic patterns. The radioulnar synostosis noted in cases with supernumerary X chromosomes cannot be distinguished from the inherited anomaly (AD, 17930), but associated anomalies of the hand are uncommon.

Child↗
PubMed1986

Prenatal ultrasonic diagnosis of fetal thoracic and intrathoracic abnormalities.

Seventeen cases of different types of fetal thoracic and intrathoracic abnormalities were diagnosed prenatally by ultrasound: nonimmune hydrops (5 cases), diaphragmatic hernia (3), Potter's syndrome (3), chylothorax (1), exstrophy of the cloaca (1), the extreme form of prune-belly syndrome (2), cystic hygroma (1) and short rib polydactyly syndrome (Majevski type) (1 case). The ultrasonic features of nonimmune hydrops, diaphragmatic hernia, Potter's syndrome and cystic hygroma are well recognized by most experienced sonographers. The ultrasonic prenatal diagnosis of exstrophy of the cloaca, a very rare entity, has not been reported previously. The condition consists of a large infraumbilical anterior abdominal wall defect, lumbosacral myelomeningocele, and fetal ascites. The extreme form of prune-belly syndrome is associated with the absence of the abdominal wall musculature and marked dilatation of the urinary tract, presented ultrasonically as multiple large cysts occupying the distended fetal abdominal cavity. In exstrophy of the cloaca, prune-belly syndrome, Potter's syndrome and short rib polydactyly syndrome the chest abnormality is similar-extreme shortening of the thoracic cage, which has various causes. The differential diagnosis of all these entities and guidelines for their correct prenatal ultrasonic diagnosis are presented.

Diaphragmatic Eventration↗
PubMed1987

[An unrecognized etiology of sexual ambiguity: Smith-Lemli-Opitz syndrome or a new entity?].

The authors report three cases of a new syndrome which characteristic anomalies are facial dysmorphism with anteverted nose, down slanting palpebral fissures, ptosis, severe microretrognatia, polydactyly. The authors insist on the particular severe genital anomalies, the failure to thrive and the constant lethal issue. The authors discuss the diagnosis of Smith-Lemli-Opitz syndrome and suggest the possibility of a new entity always confounded with others associations characterized by a polydactyly and a sexual reversion in male.

Abnormalities, Multiple↗
PubMed1983

A review of limb defects in a large fetus collection.

Although a considerable number of papers have been published dealing with the frequency and variety of genetic and nongenetic limb defects in newborns and to a lesser extent among embryos, little has been published about the range of limb defects among spontaneously aborted middle and late-term fetuses. This study reports on 133 limb defects from the Central Laboratory for Human Embryology (CLHE), Seattle, Washington. These constitute 34.1% of the total defective specimens in the collection and 5.4% of the total collection population. It is proposed that 30% of the limb defects described indicate a definite recurrence risk, 27% do not indicate recurrence, and the recurrence risk for 43% is unknown. The most interesting findings from this study include the observation that reduction defects affect predominantly the preaxial side of the upper limb and that addition defects (polydactyly) affect predominantly the postaxial side of the lower limb. The observation in relation to reduction defects agrees with U.S. newborn studies. The observation in relation to polydactyly is exactly opposite the studies of Latin American newborns and Japanese embryos.

Anencephaly↗