Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Syndactyly”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,189 records · Page 66Linked to original sources
PubMed1990

[Current treatment of malformations of the hand].

Since 1976, the author has operated over 700 congenital malformations of the hand. This treatment was modified in several ways: 1) The age of the patients has become younger, treatment sometimes beginning before one year of age (syndactyly, radial clubhand). 2) A number of techniques, such as the removal of a supernumerary thumb or pollicization, have become much more complex and standardized, thus greatly improving the outcome. 3) Other malformations (aplasia of the fingers), which were left untreated before, can now be treated by growing bone grafts or the transfer of toes.

Follow-Up Studies↗
PubMed1990

[The amniotic band syndrome--report of two cases].

The amniotic band syndrome (ABS) includes intrauterine amputations, syndactyly, fetal disruption, fetal compression deformities and constriction rings associated with disruption of the amniotic membrane. The defects caused by ABS varied from simple digital band constrictions, limb defects to major visceral and craniofacial defects; fetal death may also occur. Because the ABS is a sporadic disorder that may mimic recurrent disorders, such as achondroplasia, anencephaly, Apert's syndrome, etc, it is very important to do appropriate genetic counseling and accurate diagnosis for every infant born with multiple birth defects. We report two severely damaged cases with typical features. This article also reviews the clinical features of ABS, its etiology, pathogenesis, and the status of prenatal and neonatal diagnosis are also discussed.

Adult↗
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↗
PubMed1990

[Chotzen-Saethre syndrome with oligophrenia and psychological abnormal development].

A weak minded man aged 31 years exhibited with moderate acrobrachycephalia, basal cutaneous syndactylies of the 2nd and 3rd fingers, marking symptoms of the Saethre-Chotzen syndrome (SCS), with dominant inheritance in three generations. Additionally there were symptoms of Ascher's syndrome, blepharochalasis, goitre and broad lower lip. The psychic maldevelopment is considered in association with a syndrome of the frontal lobe. Severe craniostenosis is rare at SCS; cosmetic handicap and obstruction of the nasal airway can be corrected by craniofacial surgeon.

Acrocephalosyndactylia↗
PubMedDate not supplied

[Proteiform syndrome (Proteus syndrome). Skin manifestations in a recently observed case].

The case of a 4-year-old female affected by partial gigantism of the feet, syndactyly and polydactyly, partial right hemihypertrophy of buttock and lower limb, warty hyperpigmented nevus and vulvar lipoma is described. The Authors discuss about the Proteus syndrome, pointing out its rarity, the polymorphism and the problems of differential diagnosis with the Klippel-Trenaunay-Weber syndrome and with other congenital hamartomatous disorders.

Abnormalities, Multiple↗
PubMed1989

[Renal agenesis and the Fraser syndrome: 4 observations].

The authors report on 4 cases of Fraser syndrome in 2 Turkish families. Both families are consanguinous. In 3 cases there is a bilateral renal agenesis, a feature which is not usually regarded as a main one. Actually the survey of the literature reveals that renal anomalies are not infrequent in this syndrome, even though the cryptophtalmos would be lacking. A five year study of the malformations Registry of the Rhone-Alpes-Auvergne-Jura area shows that the association between renal agenesis and syndactyly (with or without the eye abnormalities) is quite rare. Such an association leads to the diagnosis of Fraser Syndrome even when cryptophtalmos is absent, and requires to look for minor ENT or ophthalmic symptoms by a careful post mortem examination.

Abnormalities, Multiple↗
PubMedDate not supplied

[Type-III acrocephalosyndactylia (Saethre-Chotzen syndrome). Description of 2 cases].

The acrocephalosyndactylia III is a syndrome, which follows an autosomal dominant mode of inheritance, characterized by premature fusion of the cranial sutures in association with mild cutaneous syndactyly. The authors describe two cases recently come to their observation and point out the usefulness of the imaging diagnostics (CT, MRI) in finding anomalies specific of this affection.

Acrocephalosyndactylia↗
PubMed1989

Reconstruction of the burned hand.

Several basic principles of burned hand care must be kept in mind at all times. Intervention should be early and aggressive, small splints should be placed within 24 hours, and early tangential excision of the burn should be done within 72 hours. Hemostasis should be absolutely meticulous prior to grafting. Depending upon the availability of donor site skin, full-thickness skin grafts, split-thickness grafts, or meshed split-thickness grafts (expanded or not expanded) are preferred. I have found the functional and cosmetic results to decrease with use in exactly the order stated. The skin graft should be placed with stent or bolster dressings and observed for "take" early. Light active range of motion is usually begun on the tenth postoperative day. Escharotomy or fasciotomy should be performed for any signs of ischemia. In order to control edema, one should be meticulous in the positioning of burned hands, emphasizing elevation, and early range of motion exercises. Pressure garments may be employed when the wound is stable and should continue for 6 to 12 months to control hypertrophic scar formation. Linear scars should not cross any hand joints; Z-plasties are employed over the web spaces. Whenever possible, flaps should be employed to preserve all web spaces and skin grafts used to cover the remainder of the hand. I am aggressive in releasing and reconstructing late deformities such as extension contractures of the wrist, the metacarpal hand, absence of the thumb, finger contractures, and burn syndactyly. These are listed in order of treatment priority. Only in this manner can the patient be returned to "normal life." Patient self-esteem will thus be increased markedly, as will quality of life. It is strongly urged that the surgeon be "captain of the team." The key person in this treatment regimen is the hand therapist, who uses appropriate splints, range of motion exercises, and desensitization programs. I encourage the use of multiple personnel on the "burn team." This may include psychotherapists and, in children, teachers with extraordinary qualities.

Burns↗
PubMed1989

[Early amnion rupture as a cause of multiple congenital abnormalities in the newborn infant].

We describe two children with congenital deformities due to the early amniotic rupture syndrome. One child who had an amniotic band around the upper arm suffered from a distal nerve lesion. This was relieved following surgery. The second child died shortly after birth of multiple congenital malformations. The most usual findings in this syndrome are constriction of a limb by an amniotic band, scoliosis or syndactyly due to oligohydramnion with compression. We discuss one accepted hypothesis (subscribed by an experimental animal study) of the aetiology of the early amniotic rupture syndrome.

Abnormalities, Multiple↗
PubMed1989

The popliteal pterygium syndrome: distinct phenotypic variation in two families.

Two families with two and four members, respectively, affected with the autosomal dominantly inherited popliteal pterygium syndrome (PPS), are reported. In both, only the proposita revealed the full pattern of the PPS including lip pits, clefts, gingival synechiae, popliteal pterygia, syndactyly and genital hypoplasia. One patient in addition had bilateral meatal atresia, a finding hitherto unreported in patients with this syndrome. In both families, one parent and in one, additional members were mildly affected, and both families include members with lip pits as the only manifestation of the PPS. This syndrome has to be considered in patients manifesting only lip pits with or without clefts.

Adult↗
PubMed1978

Bilateral femoral dysgenesis syndrome: a case report.

This paper reports a child with the Bilateral femoral dysgenesis--unusual facies syndrome (BFD-UF). The child has, in addition to previously reported findings, a ventricular septal defect with valvar and infundibular pulmonic stenosis, absence of the labia majora, bilateral syndactyly of the second and third toes, bifid great right toe and a pilonidal sinus. The similarity to cases of Caudal Regression Syndrome (phocomelic diabetic embryopathy) is noted.

Abnormalities, Multiple↗
PubMed1987

[Congenital hemihypertrophy associated with cutaneous pigmento-vascular, cerebral, visceral and bone abnormalities].

A case of hemihypertrophy associated with multiple anomalies of the skin, bone and visceral organs is presented. A 31-year-old female was admitted for evaluation of her skin conditions. Her family history is noncontributory, while her past history discloses operations for syndactyly of the right foot, tonsillar hypertrophy, anal prolapse and ovarial cyst. Erythemas of the face and the left upper extremity were noticed during the neonatal period and hypertrophy of the right side of the body started at age 2 months. On admission, hemihypertrophy was observed in the face, trunk and extremities. Multiple faint nevi flammei were seen on the right half of the face and on the left side of the trunk and extremities. Telangiectasis and nevus anemicus were seen in the upper chest. The left upper extremity showed diffuse brown patches that was histologically basal pigmentation with some giant melanosomes. Visceral anomalies consisted of fibromatous tumors of the tip of the tongue and mitral prolapse. Angiography and computed tomography revealed a possible arteriovenous malformation of the right occipital region, small hemangiomas around the patella, dilation of the lateral ventricle, and calcification of the choroid plexus. Tortuous superficial veins were noted in the right leg. She had no seizure, but her IQ was 68. The bone disorders consisted of scoliosis, short forth metacarpus, hypoplastic mandible and peroneal exostosis. Examination revealed a slight diminution of urinary corticosteroid, but no other endocrinological disorders were found. The hemihypertrophy in this case is at least partially due to an arteriovenous shunt, suggested by elevated oxygen saturation of the blood obtained from the internal saphenous vein.(ABSTRACT TRUNCATED AT 250 WORDS)

Abnormalities, Multiple↗
PubMed1989

Pregnancy outcome following first trimester exposure to cocaine in social users in Toronto, Canada.

Studies of drug-dependent women reveal high rates of adverse fetal effects of cocaine. However, no data are available on the effect of the chemical in social users who discontinue cocaine upon realizing they are pregnant. We report the results of the first phase of a prospective study examining the outcome of pregnancy in women seeking counseling from the Motherisk Program in Toronto. Of 25 women seen in our clinic for 1st trimester cocaine exposure, 92% reported use of less than 10 g of cocaine and 36% reported marijuana use. Other illicit drug use was rare; cigarette and alcohol use was common. The study group did not experience adverse pregnancy outcome above the rate expected in the general population. There were 23 single births 1 pair of twins, and 1 spontaneous abortion. Birth weight and gestation were within normal limits. Only 1 child had a major malformation, syndactyly. Infant development was within normal limits, as measured by developmental milestones. All children are scheduled for assessment using the Bayley Scales of Infant Development. The results of the BSID will be compared to results from a cannabis-exposed control group and a no-drug control group.

Canada↗
PubMed1988

Reconstruction of the lids of a child with microblepharon and multiple congenital anomalies.

The initial stages in the rehabilitation of a male child with severe microblepharon, corneal opacities, bilateral facial clefts, bilateral complete cleft lip and palate, and unilateral syndactyly are described. Review of the literature suggests that severe microblepharon is associated with other craniofacial anomalies, and often the child is stillborn or retarded. Surviving children have been abandoned because of their appearance. The child described in this case appears to be unique because his intelligence is normal, and, to our knowledge, this is the first reported case of penetrating keratoplasty after reconstruction of functional eyelids. The principal problems after corneal grafting appear to have been chronic partial exposure due to inadequate lid length and a poor Bell's reflex and the persistence of a rim of vascularized fibrous tissue around the corneal graft. Future reconstructive surgery is outlined.

Cleft Lip↗
PubMed1988

[Complete triploidy in a live newborn infant. Review and contribution of a new case].

A preterm newborn with complete triploidy and serious hyaline membrane disease is reported. Characteristic pattern of malformations (large, posterior fontanelle, low-set malformed ears, hypertelorism, exophthalmos, micrognathia, syndactylies of the third and fourth digits of all extremities, micropenis and cryptorchism), and abnormal hematologic features (decreased number of red blood cells and increased RBC indices) suggested diagnosis which was confirmed by a 69,XXY karyotype. As factors with possible causal responsibility authors remark first-month abdominal radiation and chronic exposure to industrial toxic during pregnancy in the mother and no specific trend toward chromosome rupture in the father, and second trimester pre-eclampsia. No familial previous cases of chromosome anomalies nor congenital malformations were referred. From the review of 56 published reports they conclude that triploidy syndrome has a characteristic and recognizable array of phenotype abnormalities.

Abnormalities, Multiple↗
PubMed1978

Trisomy 3 (p23-pter) resulting from maternal translocation, t (3 ; 4)(p23 ; q35).

We describe a patient with partial trisomy 3p resulting from maternal translocation, t(3:4)(p23;q35). The male newborn who died at the age of 22 hours presented with distinct facial features including a square-shaped face with prominent forehead and depressed temporal regions, prominent cheeks, short broad nose, left cleft lip and cleft palate, malformed ears, and a receding mandible. Further findings were flexion deformities of the fingers with finger-like thumbs and mild cutaneous syndactyly 2/3 and 4/5, hypoplastic penis and scrotum with no palpable testes. He probably had a congenital heart defect and situs inversus abdominalis. Many of these features have been reported in other patients with distal trisomy 3p.

Abnormalities, Multiple↗
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↗
PubMed1977

[Therapeutic possibilities malformations of the metacarpus].

The most common deformities of the metacarpus occur in conjunction with poly- and oligodactyly. The authors first refer to the most important operations in treating these deformities and emphasize that in certain cases solitary resection of surplus fingers is not enough: in addition, outgrown articular process must be removed, bent metacarpals osteotomised and capsular defects closed. The treatment of oligodactylic hands is made difficult by cutaneous and osseous syndactyly. The operating surgeon should have sufficient experience in plastic surgery to be able to take care of severe adduction contractures of the thumb with constriction of thumb commissure. For aplasia and hypoplasia in the thumb ray the already proven index finger pollizisation is thetherapy of choice. Triphalangeal thumbs are operated according to the same principles. On the other hand in brachyphalangeal thumbs commissure increase and correction of the clinodactylia are of prime importance. Phalangisation is very rewarding in certain forms of synbrachydactyly. In some deformities only the thumb is present. In these cases we recommend an opposition post built out of a tubed flap and autogenous bone graft. Some examples of defective hands surgically treated are shown.

Congenital Abnormalities↗