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PubMed1988

[Cubital dimelia. Apropos of a case with review of the literature].

Cubital or ulnar dimelia is a very rare congenital abnormality involving almost perfect duplication of the ulnar with absence of the radius, thumb and polydactyly. An eleven week old child was seen in the Department of Pediatric Surgery for a malformation of the left upper limb including deformity of the forearm with almost doubling of the hand and seven fingers. Radiological investigation revealed duplication of the ulna as well as of the metacarpals and fingers with absence of the radius and thumb. This type of abnormality remains controversial but clinical and radiological examination led to the conclusion of primary ulnar dimelia. We report a new case of this very rare congenital abnormality which was not accompanied by any other malformation.

Hand Deformities, Congenital↗
PubMed1987

Rare syndromes. The Kaufman-McKusick syndrome. A review of the 44 cases reported in the literature.

The Kaufman-McKusick syndrome (MK 23670) is a rare autosomal recessive disorder characterized by the triad of hydrometrocolpos, postaxial polydactyly, and congenital heart disease. Multiple other anomalies have been ascribed to this syndrome. Hydrometrocolpos, especially if unrecognized, may be a serious, life-threatening condition in the newborn girl. Forty-four cases have been so far reported in the literature. A great phenotypic variability occurs in this syndrome, therefore making it very difficult to identify the disorder at its presentation and classify it correctly. We shall hereafter review current data regarding the prominent clinical features, the diagnosis and treatment of this syndrome. Problems in genetic counseling will be discussed.

Abnormalities, Multiple↗
PubMed1988

Congenital malformations and intrauterine growth retardation: a population study.

The relationship between congenital malformations and intrauterine growth retardation was investigated using data from the population-based Metropolitan Atlanta Congenital Defects Program. Between 1970 and 1984, the system ascertained 13,074 infants with major structural malformations diagnosed in the first year of life and born to metropolitan Atlanta residents. These infants were classified as having intrauterine growth retardation if their birth weight was below the race-, sex-, and gestational age-specific tenth percentile limits for all Atlanta births. Overall, the frequency of intrauterine growth retardation among malformed infants was 22.3% (relative risk 2.6). Of 48 defect categories evaluated, 46 were associated with excess intrauterine growth retardation, most notably chromosomal anomalies (eg, 83.7% for infants with trisomy 18, relative risk 46) and anencephaly (73.3%, relative risk 25). Only a few isolated defects (such as isolated polydactyly, pyloric stenosis, and congenital hip dislocation) were not associated with excess intrauterine growth retardation. Among infants with multiple malformations, the frequency of intrauterine growth retardation increased markedly with increasing number of defects--from 20% for infants with two defects to 60% for infants with nine or more defects. The relationship between malformations and intrauterine growth retardation can be explained by one or more of three mechanisms: (1) intrauterine growth retardation can be a secondary disturbance to the presence of malformations; (2) intrauterine growth retardation can predispose the fetus to malformations; and (3) intrauterine growth retardation can coexist with malformations because of common etiologic factors.(ABSTRACT TRUNCATED AT 250 WORDS)

Anencephaly↗
PubMed1987

Terminal deletion of the short arm of chromosome 3, del(3pter-p25): a recognizable syndrome.

The 3p- syndrome (terminal deletion of the short arm of chromosome 3 with breakpoint at 3p25) was found in the G-banded karyotypes from an undergrown and developmentally retarded 13-month-old girl with a distinct pattern of congenital abnormalities. Features present in the patient and characteristic of the 3p- syndrome included low birthweight, brachy-trigonocephaly, a high and narrow forehead with a prominent metopic suture, epicanthic folds, upslanting palpebral fissures, ptosis, depressed nasal bridge, anteverted nares and a small mandible. She lacked postaxial polydactyly of fingers and toes which is present in about half of the so far reported about one dozen 3p- cases, but she showed an anteriorly placed anus. The deletion was overlooked at a first routine cytogenetic examination. At a later clinical evaluation of the patient, the suspicion of the 3p- syndrome was raised and the aberration found at revision of the old karyotypes. The importance of a good information flow between clinicians and cytogeneticists is stressed.

Anal Canal↗
PubMed1986

Observations about the normal and abnormal embryogenesis of the canine lip and palate.

Twenty-three puppies with cranofacial and limb abnormalities from a family of Australian shepherd dogs were studied anatomically. Limb abnormalities included lumbar scoliosis, short malformed tibias and fibulas, and polydactyly. Craniofacial abnormalities consisted of retronathia, cleft palate, and cleft lip. The clefts can be separated into three categories: group I, cleft of the secondary palate associated with a midline cleft lip; group II, unilateral cleft of the lip and primary and secondary palate; and group III, complete bilateral cleft of the lip and primary and secondary palate. Comparing human clefts with the canine clefts suggests that the development of the secondary palate is similar whereas the development of the upper lip is different. In the dog, the maxillary processes fuse in the midline to produce the majority of the upper lip, whereas in the human the upper lip is composed of fused maxillary and medial nasal processes.

Animals↗
PubMedDate not supplied

[Smith-Lemli-Opitz syndrome: evaluation of the correlations between individual traits as an approach to the study of heterogeneity].

A computer analysis was used to study heterogeneity of the Smith-Lemli-Opitz syndrome (SLOS) with or without certain anomalies and to determine intrafamilial phenotypical variability. The analysis of 83 SLOS cases showed significant differences in average values of intragroup similarity, estimated for the cases with cleft palate and without it and those with or without polydactyly. The degree of intragroup similarity in familial cases appeared to be twice as high as in sporadic ones. These data confirm the hypothesis on genetic heterogeneity of SLOS with some allelic forms.

Abnormalities, Multiple↗
PubMed1986

Life-threatening respiratory failure due to a previously undescribed myopathy.

The case of a young man with a previously undescribed myopathy associated with polydactyly is reported. Although both limb girdles were affected, the major effect of the disease was upon the respiratory muscles leading to his presentation with life-threatening respiratory failure. A further feature was pronounced stiffness of the vertebral column and limb girdles, similar in some respects to the 'rigid spine syndrome'. Muscle biopsy appearances were unique but showed some similarities to both nemaline myopathy and myotonic dystrophy. Ventilatory assistance at night using a rocking bed led to a marked improvement and has enabled the patient to return to full-time employment.

Adult↗
PubMed1986

Syndromes, communicative disorders, and black children.

Birth defects increase the risk of speech, language, and hearing disorders in childhood. The prevalence of particular congenital anomalies varies from one racial and ethnic group to another. Some conditions such as the hemoglobinopathies, polydactyly, and external ear malformations are more common among black people. Other birth defects are rarer among black children, notably cleft lip and palate, neural tube defects, and phenylketonuria. The more common defects of Down's syndrome, neurofibromatosis, and cerebral palsy appear to occur in equal frequency in black and white Americans.Speech-language pathologists, audiologists, and other health professionals who work with black children with birth defects must be familiar with the special problems and the positive features reflected in this population. Difficulties in obtaining adequate medical care, poor health and nutrition, and inadequate financial support are problems plaguing the poor. However, the shared responsibility assumed by the church, the community, and the extended family often results in positive acceptance of the handicapped child. Many families rely on folk medicine whose remedies can often be combined with traditional therapies for the ultimate benefit of the patient.Health professionals must assume a managerial role to ensure that services reach the child with syndrome-related speech, language, and hearing problems.

Black People↗
PubMedDate not supplied

[Incidence of congenital malformations at birth in a series of maternity patients of Guadeloupe].

A study of 8,142 live and still-born babies was carried out from July 1979 to February 1983 in Guadeloupe (French West Indies). The total incidence of malformations detected at birth was 1.71% (minor malformations such as polydactyly being very frequent in this population were excluded). Among the malformed children, 25% had multiple malformations and 17% were still-born. Two types of malformations seem to be particularly frequent: those of the central nervous system (3.8%) and of the digestive tract (2.45%). The malformed group differs in birth-weight and size, in still-birth rate and in the incidence of obstetrical history.

Abnormalities, Multiple↗
PubMed1985

46,X,i(Xq)/47,XX,+13 mosaicism.

A 10-year-old girl with short stature and other features of Turner's syndrome was found to be a mosaic consisting of 46,X,i(Xq) and 47,XX,+13 cell lines, a hitherto undescribed situation. She had none of the clinical features of trisomy 13 syndrome, with a possible exception of postaxial polydactyly of the left foot. Her PHA-stimulated blood lymphocytes and EB virus-transformed B lymphocytes both revealed the Xi(Xq)/XX,+13 mosaicism, while her skin fibroblasts showed an exclusively 46,X,i(Xq) karyotype. Studies using Q-and R-banding heteromorphisms as markers indicated that the patient started as a 13 trisomic zygote resulting from a maternal meiotic error, followed by the loss of chromosome 13 at an early mitotic division. C-banding analysis revealed two C banding blocks in the iso X chromosome, an indication that the chromosome was dicentric. BrdU-Hoechst-Giemsa analysis revealed that the iso X chromosome was late-replicating with both its arms either synchronously or asynchronously replicating. The iso X chromosome was thus designated as idic (Xq)(p11:p11). In view of the presence of the XX cell line, it was concluded that the patient started as an XX,+13 zygote, followed by two mitotic events, the loss of a chromosome 13 and the formation of the iso X chromosome, occurring either simultaneously or in succession.

Abnormalities, Multiple↗
PubMedDate not supplied

Heritable syndrome of skeletal defects in a family of Australian shepherd dogs.

A syndrome of multiple defects including cleft palate, polydactyly, and often syndactyly, shortened tibia-fibula, brachygnathism and scoliosis lethal to males is described in a family of Australian shepherd dogs. Female pups lack the cleft palate and survive, but may exhibit the other defects to a lesser degree than do males. Litter data suggest that the trait is inherited as an X-linked lethal gene, but the possibility of a sex-influenced autosomal allele cannot be ruled out. The syndrome may have arisen in conjunction with instability of the merle locus.

Animals↗
PubMed1985

[An 8-finger hand with ulnar duplication (mirror image deformity)].

The authors present a congenital arm- and hand deformity in a four year old boy. This "mirror deformity" includes aplasia of the radius, doubled carpus and metacarpus, polydactyly (eight fingers) and aplasia of the thumb. The hypoplastic radial four fingers show brachysyndactyly, the whole upper extremity is hypoplastic but both shoulders are normally developed. The elbow has an extension contraction with a range of movement of 20 degrees in the double olecranons. The wrist has a flexion contracture. At first, pollicisation of the third finger of the hypoplastic radial part of the left hand with resection of three hypoplastic fingers was performed. The thenar muscles were reconstructed with interosseous muscles and the flexion contraction corrected by shortening and doubling of the extensor tendons. Preoperative EMG studies demonstrated two ulnar nerves with cross-innervation of the median nerve. The postoperative situation was recorded again by EMG.

Amputation, Surgical↗
PubMed1974

A case of an eight-toed foot.

A case of an eight-toed foot which was successfully treated at 13 months of age by resection of the middle toes, and transfer of the posterior tibial and anteriotibial tendons has been described. A double sized great toe was present. Since no other associated congenital abnormalities were present, this is classified as an isolated polydactyly.

Congenital Abnormalities↗
PubMed1971

Mesoectodermal dysplasia of the iris and cornea, mental retardation and myopathy: a sporadic case.

The Rieger syndrome is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases short stature, abnormal external ears, hypertelorism, arachnodactyly, polydactyly, scoliosis, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases mental retardation. This report presents a sporadic case of the Rieger syndrome, the findings in which include the characteristic ocular anomalies, shortness of stature, mental retardation, absent dental defects and a peculiar, heretofore unobserved, myopathy.

Abnormalities, Multiple↗
PubMed1975

[Contribution to information and genetic counseling in Mekkel's syndrome (author's transl)].

The deformity syndrome nowadays named after Meckel is characterized by the following principal features: occipital encephalocele, cystic kidneys and a polydactyly. According to the available findings in twins and families, an autosomal recessive lethal syndrome is involved. In 8 (= 16.6%) of 48 families, the parents of the feature carrier were blood relations. Heterozygous anlage carriers cannot yet be recognized as such. To make a statement in genetic counselling today, ultrasonic diagnosis and an amniocentesis must be carried out early in a pregnancy at risk.

Abnormalities, Multiple↗
PubMed1979

Morphologic comparison of piglets from first and second litters in chronic ethanol-consuming Sinclair(S-1) miniature swine.

Piglets (L-1) from 13 litters farrowed by 1-year-old, first litter alcohol-consuming dams were evaluated for altered morphology, A second group of piglets (L-2) farrowed by 6 second litter alcohol-consuming dams also was evaluated. Mean litter size and birth weight for L-1 piglets were 4.85 and 602 +/- 152 g; mean litter size and birth weight for L-2 piglets were 2.00 and 478 +/- 168 g. Fetal mortality rates for L-1 and L-2 piglets were 15 and 25%, respectively. Anomaly rates observed in fetal deaths were 11 and 100% for L-1 and L-2 piglets, respectively. L-1 anomalies were macrocephaly, microphthalmia, necrosis of bowel, nonexternalization of penile tissue, unascended kidney and unilateral renal hypodevelopment. L-2 anomalies were anencephaly, microcephaly, nonfusion of cranial sutures, macrocephaly, microphthalmia, nonfusion of mandibles, cleft palate, imperforate cloaca, sydactyly and polydactyly.

Abnormalities, Drug-Induced↗
PubMed1977

The effects of thalidomide and two analogues on the regenerating forelimb of the newt.

Oral administration (3 mg/day) of thalidomide during the dedifferentiation and early limb-bud stages of newt forelimb regeneration produced a variety of specific limb deformities. Proximal and preaxial skeletal elements were the most severely malformed, e.g. preaxial hemimelia, severe proximal deformities, and preaxial polydactyly. Likewise, oral, daily doses (3 mg) of the teratogenic analogue, EM12, on days 7 and 8 following bilateral amputation caused the same incidence and type of forelimb abnormalities as did thalidomide. Conversely, the non-teratogenic analogue, EM87, when orally administered (3 mg/day) on days 7 and 8 post-amputation resulted in a low rate of limb deformities, similar in type to those seen in control regenerates. The type of limb deformities observed in the regenerating newt forelimb following thalidomide treatment nearly mimic those seen in the human and monkey syndromes. Therefore, the newt represents a possible model for investigating some of the problems associated with thalidomide teratogenesis.

Amputation, Surgical↗
PubMedDate not supplied

[Cloverleaf cranial anomaly. Report of 2 cases].

Two cases of cloverleaf anomaly are presented. The first one was associated to complete spina bifida and flexion of elbows and knees, and the second to syndactyly of 3rd and 4th fingers of both hands; short, broad and swerved thumbs; rudimentary bilateral preaxial polydactyly, pes varus with broad first metatarsus. Authors agree with the opinion that this anomaly is a sign which may occur in disorders with early craniosynostosis and emphasise the importance of the identification of the underlying disorder because, knowing its pattern of inheritance, a proper genetic advice may be rendered. The neurosurgical procedure can be useful for cosmetic purposes and for encephalitic decompression, but the results are somewhat unsatisfactory because of the severity of the defect.

Abnormalities, Multiple↗