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At least 1,207 records · Page 67Linked to original sources
PubMed1987

[Cloverleaf skull associated with generalized bone defects close to asphyxiating thoracic dysplasia].

The association of cloverleaf skull and micromelia is reputed. X-ray images of the skull are typical; those of the skeleton are compatible with the thoracic dysplasia reported by Jeune, or with chondro-ectodermic dysplasia: short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, absent ossification of the terminal phalanges. The mode of inheritance of the syndrome is probably autosomal recessive. The association reported is undescribed until now, although cloverleaf skull can be associated with other bone deformities. Most often the latter are thanatophoric dwarfism or a syndrome including ankylosis of the elbow joints, occasionally of the knees, club-foot, syndactyly and absent phalanges.

Abnormalities, Multiple↗
PubMed1986

Dominantly inherited unilateral terminal transverse defects of the hand (adactylia) in twin sisters and one daughter.

Most previous cases of unilateral terminal transverse defects of the hand have not been familial. Several previously reported cases of apparent autosomal dominant inheritance of such defects have subsequently been reclassified as type B brachydactyly. We report a pair of adult twin women with unilateral terminal transverse defects affecting the left hand in one woman and the right hand in the other woman. The latter woman has one daughter with a unilateral terminal transverse defect affecting the left hand. The hand anomaly is characterized by absence of the terminal portions of digits 2 to 5 with a mildly hypoplastic thumb (adactylia). Tiny nail remnants are evident on the remaining digital stumps, and no soft tissue syndactyly is apparent. At 2 years of age, the daughter has hypoplastic first, fourth, and fifth metacarpals with no ossification of the second or third metacarpals or any of the phalanges. The affected mother has hypoplastic metacarpals for digits 2 to 4 and a vestigial fifth proximal phalanx on the affected hand, with no other phalanges evident by roentgenogram other than those of the thumb. The mother's twin sister has similar findings, except the ossified phalangeal remnant is on her second and third fingers rather than her fifth finger. Doppler flow arterial patterns appeared normal in each hand of affected family members. The other hand and both feet are clinically and radiologically normal in each case, and the family history is negative for any other individuals with limb anomalies. A review of the literature suggests that this family may very well be unique.

Adult↗
PubMed1985

Classification and functional management of congenital central defect of the hand.

Classification of central defect of the hand includes three general categories--Type I (typical), Type II (atypical), and Type III (two, three, and four digit hand). These three types of central defect have one common denominator--central metacarpal deficiency or absence. Otherwise, these three distinct types differ completely in inheritance pattern, characteristic features, bilaterality, and functional management. Functional management of the Type I central defect combines release of the tethered thumb metacarpal from its adduction contracture and simultaneous closure of the cleft using that redundant skin to fabricate a physiologic thumb-index web. Type II reconstructive procedures should be planned to provide as effective a pinch and grasp as possible between the radial and ulnar columns by deepening the central cleft, excising "digital nubbins" and any impinging skeleton, and performing rotational osteotomies of either metacarpal base or both and, occasionally, transfers to provide active digital flexion. Type III reconstructive procedures should release the adducted thumb and fabricate a physiologic thumb-index web along with appropriate releases of syndactyly. In the two-digit hand, rotational osteotomies may increase function.

Congenital Abnormalities↗
PubMedDate not supplied

[Neurogenic hypernatremia with adipsia and cerebral malformations in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate syndrome].

An infant with E.E.C. Syndrome (a genetic condition characterized by: Ectrodactyly, Ectodermal dysplasia, Cleft Lip-Palate) and delayed psychomotor development was found to have chronic hypernatremia and absence of thirst. Computerized brain tomography revealed abnormal lateral ventricles, agenesis of corpus callosum, calcified cortex. His plasma Anti Diuretic Hormone (ADH) levels were inappropriately low relative to his high values of plasma osmolality, whereas ADH responsiveness to nonosmotic stimuli was normal. E.E.C. Syndrome in this baby is characterized by: ectrodactyly of the feet, syndactyly of the 3rd and 4th finger of the hands, bilateral cleft lip and cleft palate, bilateral microtia, lacrimal ductular stenosis. To our knowledge, this is the first report of a case of chronic hypernatremia in conjunction with normal ADH stores, congenital abnormalities of brain structures, and E.E.C. syndrome.

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↗
PubMed1974

The phenotype of human triploidy.

Triploid infants are born prematurely and usually live less than one day. The triploidy syndrome is characterized by general dysmaturity and the following features: muscular hypotonia; large placenta with frequent hydatidiform changes; large posterior fontanel; low-set dysmorphic auricles; hypertelorism; microphthalmia and colobomata; cutaneous syndactyly of fingers three and four; simian crease; maldeveloped external genitalia; hypospadias; cryptorchidism and Leydigian cell hyperplasia of the testes in XXY males and hypoplastic adrenals.

Abnormalities, Multiple↗
PubMed1979

Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome?

A male patient presented with a pattern of congenital malformations including macrocephaly, absence of the corpus callosum, hypertelorism, small nose, bilateral inguinal hernias, postaxial polydactyly of all limbs and duplication with syndactyly of the big toes. His development was marked by growth retardation, repeated infections, cyanotic spells, seizures, and gross motor and mental retardation. This case probably represents a newly recognized malformation syndrome of hitherto unknown etiology.

Abnormalities, Multiple↗
PubMed1977

[Familial translocation 3/22 MAT with partial trisomy 3q (author's transl)].

Two mentally retarded brothers with partial trisomy 3q show clinically similar malformations and deformities : dwarfism, bushy eyebrows, eversion of the nostrils, low inserted ears, high palate, microgeny, low hair insertion, short and broad hands with proximally inserted thumbs, clinodactylia of the 5th finger, syndactylies, mostly arch patterns on the digital pulps, muscular hypotonia, joint relaxation and cryptorchism. Both children had fits of convulsions. The younger boy showed, moreover, a perception deafness. The mother, the maternal grand-mother as well as the phenotypically normal sister of the patients revealed a balanced translocation 3/22 with a karyotype : 46,XX,t(3;22) (q25;p11).

Abnormalities, Multiple↗
PubMed1978

The cerebral malformation of the amnionic band syndrome.

The Amnionic Band Syndrome is a not uncommon disorder of the fetus which may result in cerebral malformations that mimic anencephaly. It is important to distinguish these two entities because of differences in pathogenesis and risk of recurrence. A preliminary stillborn female of 29 weeks gestation with multiple anomalies, including cerebral-placental fusion, cranial agenesis, cleft lip, syndactyly and ectopic liver is presented. These malformations are typical of the Amnionic Band Syndrome, an entity which has not been described in the neurologic literature.

Abnormalities, Multiple↗
PubMed1979

Focal dermal hypoplasia.

A case of focal dermal hypoplasia (FDH) or Goltz syndrome is described. The patient is a black female infant whose syndrome was first diagnosed at birth. This is a disorder of the mesoectoderm which is manifested by pigmentary skin changes similar to other disease entities, eg, incontinentia pigmenti and Rothmund-Thomson disease, but it is easily confirmed by specific significant histologic findings. The characteristic features are all noted in this infant throughout her follow-up, viz, atrophy and linear pigmentation of the skin, localized alopecia, papilloma and marked syndactyly. FDH is an X-linked condition and any physician caring for children should consider this diagnosis of the illness of the patient (especially female) who presents with the above dermal and skeletal changes.

Abnormalities, Multiple↗
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↗
PubMed1978

[A new case of macrodactyly of the hand reported in France. An attempt at a statistical study (author's transl)].

A boy of 4 years presented with hypertrophy of the last three fingers of the right hand associated with syndactyly of the middle and ring fingers. The fingers were of adult length and wider. Arteriography did not show any evidence of an aneurism but demonstrated the existence of an extensive collateral circulation. Thermography confirmed the hypervascularization with the presence of hot points. The authors found reports on 118 cases in the literature published during the last century which could be analyzed statistically. There is a slight predominance in boys (55%) and on the right side. Two fingers are usually involved, the index and middle finger being those affected. Discussions as to aetiology (GOURNET) usually vary between a neurological cause with the possibility of a fibrolipoma of the middle finger being present, and it being due to a phacomatosis. Effective therapy in adults is amputation. In the young there are several possibilities; ablation of the neurovascular masses at the base of the fingers (even though the metacarpals are often involved), destruction of proliferating cartilage, etc.

Angiography↗
PubMed1984

Interstitial deletion of long arm of chromosome 13.

The case is presented of a patient with the karyotype 46,XX,del(13q)(pter----q22::q32----qter) confirmed by densitometry and a phenotype of mental and growth deficiency, hypotonia, hypertelorism, ptosis, broad nasal bridge, protruding upper incisors, short neck, dislocation of the hip, hypoplasia of the thumbs, fusion of fourth and fifth metacarpal bones and syndactyly of toes. The findings are compared with those of well documented cases with a similar deleted segment of the long arm of chromosome 13. Although it seems obvious that a clinical syndrome for the distal deletion 13q appears to exist more studies with banded chromosomes are needed.

Abnormalities, Multiple↗
PubMed1983

Mohr syndrome in two siblings.

The present study reports on two siblings of different sex, affected with a condition corresponding to Mohr syndrome. Characteristic symptoms such as epicanthic folds, a broad and flattened nasal root, a lobulated and hamartomatous tongue, poly- and syndactyly on both hands and feet, doubling of the big toes with less frequent features such as marked psychosomatic retardation and overall hypotony have been observed. All the cited anomalies have been of importance in the differential diagnosis. Difficulties associated with classification of new syndromes and the importance for practical clinical genetics of distinguishing between them are discussed.

Abnormalities, Multiple↗
PubMed1983

[Homogeneous triploidy in 2 premature infants (69 XXY)].

Two new cases of 69 XXY triploidy in live-born neonates are reported. As in 40 others cases of literature observed after 24 weeks of gestation, this chromosome abnormality was lethal. The clinical features are: a large posterior fontanelle, low set ears, syndactylies of hands and feet, and genital abnormalities in the presence of a 69 XXY karyotype. The first patient present a macrocytosis of red blood cells. Macrocytosis, large polymorphonuclear leukocytes and platelets can evoke the diagnosis of triploidy in a malformed newborn.

Chromosome Aberrations↗
PubMed1983

Dermatoglyphics in Saethre-Chotzen syndrome: a family study.

The dermatoglyphic findings in a Cuban family with the Saethre-Chotzen syndrome are reported. The family consisted of the parents who were first cousins and their three children. A new classification of zygodactylous patterns was used. Characteristic dermatoglyphic patterns which appeared in these cases were representative of the syndrome. Dermatoglyphics also helped to discover minor expressions of syndactyly and showed that all the members of the family had zygodactylous patterns on palms and soles.

Acrocephalosyndactylia↗
PubMed1978

[Do all cases of trisomy 18 with long survival (beyond 10 years) show mosaicism in fibroblasts? (author's transl)].

Description of a young girl aged 16 1/2 years who presents the typical features of trisomy 18 : small height, microdolichocephaly, anti-mongoloid palpebral fissures, micrognathia, microstomia, arched palate, malformed ears, atrophy of thenars and hypothenars, clinodactyly of fifth fingers and abortive cutaneous syndactyly between IV and V. At the lower limbs, there is a shortening of the right leg, an atrophy of the calves, as well as genua valga and bilateral pes excavatus with dorsiflexion of the toes. The gait is rigid with enlarged basis of sustentation. The results of the cardiac examination point to a minor ventricular septal defect. The development of secondary sexual characters (breasts and body hair) corresponds to the puberal age; the large pudendal lips are hypoplastic. The X-rays show a double left kidney. There is a very severe oligophrenia (I.Q. = 20). Cytogenetic examinations showed a typical trisomy 18 in 100% of observed lymphocytes, while the analysis of cutaneous fibroblasts revealed a mosaicism with 87% of trisomic cells. Out of 11 cases of trisomy 18 with long survival from the literature only 3 cases were of mosaic type. The authors assume that this small number of mosaic cases in trisomy is probably due to the fact that no examination of fibroblasts has been carried out in the seven other cases.

Abnormalities, Multiple↗
PubMed1984

Mixed polydactyly. An unusual case of a patient with seven-toed feet.

Polydactyly is an entity of great etiologic heterogeneity, and many facts about its genetics remain unknown. Therefore, the relative terminology and classification in the literature are rather obscure. Mixed polydactyly, i.e., polydactyly with both preaxial and postaxial involvement in the same person, is very rare, and crossed polydactyly is even more so. A seven-year-old girl with six fingers on each hand and seven-toed feet, lower-mixed and crossed polydactyly with syndactyly, underwent operation mainly for cosmetic reasons. The report of this rare case confirms the great variability and expressivity of this malformation and suggests that large statistical studies on this subject in the future are warranted.

Child↗