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PubMed1979

The Coffin-Siris syndrome.

A 14-month-old female with the Coffin-Siris syndrome is described. Typical features included underweight at birth, growth retardation, microcephaly, profound mental retardation, severe hypotonia with lax joints, feeding difficulties and frequent respiratory tract infections; sparce scalp hair, small nose, epicanthic folds, a prominent philtrum and full lips; a congenital heart defect; hypoplasia or aplasia of the distal phalanges of digits 2--5 and the corresponding nails, especially of the fifth fingers and toes, and aplasia of the middle phalanges of the little fingers and the second and fifth toes; severe delay in bone maturation. The proposita also showed hypoplasia of the lateral portions of both clavicles. Inheritance of the Coffin-Siris syndrome is possibly autosomal recessive.

Abnormalities, Multiple↗
PubMed1987

Anatomic location of acute diabetic foot infection. Its influence on the outcome of treatment.

One hundred ten diabetic foot infections were studied in 76 patients with reference to the effect of the anatomic location of the infection on the treatment outcome. Distal infections were located in the toes or metatarsal-phalangeal joints; proximal infections were located along metatarsals, at the heel, or above the ankle. Overall limb salvage was significantly lower in the proximal group (47.8%) than in the distal group (96.6%). A revascularization for healing was required in 12 per cent of hospitalizations. Mortality was significantly higher in the proximal group, but the healing times for open wounds and overall morbidity were not different between the groups. Diabetic foot infections must receive careful and timely treatment by concerned surgeons. The outcome of proximal infections is poor, with major risk of limb loss and mortality, but not hopeless. The treatment of distal infections derives greater limb salvage with nevertheless similar morbidity and healing time.

Acute Disease↗
PubMed1995

Variations in the numbers of phalangeal bones in the four-toed salamander, Hynobius tenuis (Amphibia: Hynobiidae), from two localities in Toyama Prefecture, Central Japan.

Variations in the numbers of phalangeal bones in the fingers (I to IV) and toes (I to V) of specimens of Hynobius tenuis collected from two localities (Ashikuraji and Arimine) in Toyama Prefecture, Central Japan, were recorded. In the case of fingers of fore limbs, eight phalangeal formulas were distinguished, and in the case of toes of hind limbs, ten phalangeal formulas were recognized. In the fingers of specimens from Ashikuraji, the predominant formulas were 2-2-3-2 (40%) and 2-2-3-1 (32%). In specimens from Arimine, 2-2-3-2 was predominant (75%). In toes, the predominant formula was 2-2-3-2-0- (96%) for Ashikuraji and 71% for Arimine. The maximal number of phalangeal bones, 2-2-3-3-2, found in the toes of specimens from Arimine seems to represent the fundamental formula in hynobiid salamanders. The predominant formula, 2-2-3-2-0-, observed in the two populations may have been derived from the fundamental formula by degeneration of the phalangeal bones in the fourth and the fifth toes. The reason why phalangeal bones were degenerated in this species is discussed from an ecological viewpoint of body growth.

Animals↗
PubMed1979

Christ-Siemens-Touraine syndrome--a clinical and genetic analysis of a large Brazilian kindred: II. Affected males.

We describe 13 males with Christ-Siemens-Touraine syndrome from one family. History and examination were supplemented by three sweat tests and dermatolglyphic analysis. Some of the patients had two uncommon findings (onychodystrophy and excessive lacrimation), and five had an "incomplete" form of the syndrome. Four signs (distal phalanges of fingers and toes radially and tibially deviated, respectively; facial hypochromic spots; large occipitofrontal circumference) seem to be described for the first time. The segregation proportion in the sibships with at least an affected male was found to be normal (1:1) in 44 series of data (43 from the literature), where a high ascertainment bias was present (155 affected and 68 normal males).

Adolescent↗
PubMed1992

Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: confirmation of the Gorlin-Chaudhry-Moss syndrome.

We report clinical, orofacial and radiological manifestations in a 4-year-old girl and a 33-year-old female with the Gorlin-Chaudhry-Moss (GCM) syndrome. Typical findings in the GCM syndrome are short stature, stocky body build, midface hypoplasia, small eyes, downslanting palpebral fissures, conductive hearing loss, highly arched and narrow palate, malocclusion, abnormally shaped teeth, oligodontia, microdontia, low scalp hairline, hypertrichosis of scalp, face, trunk and limbs and genital hypoplasia. Radiological features include premature synostosis of the coronal suture, brachycephaly, and maxillary under-development. Hypoplasia of the distal phalanges of fingers and toes (also present in the 2 original cases) represents a further manifestation of the GCM syndrome.

Abnormalities, Multiple↗
PubMed2004

A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin.

Non-syndromic syndactylies have been classified into five major types (I-V), all showing autosomal dominant mode of inheritance. Later, the classification was extended and three additional variants (VI-VIII) were defined. Type VII, the Cenani-Lenz syndactyly, is the only non-syndromic, autosomal recessive type. It is characterized by fusion of all phalanges with metacarpal synostosis, dislocated and dysplastic carpals and infrequently, radio-ulnar fusion. Here, we present a Pakistani family with a novel non-syndromic autosomal recessive syndactyly manifesting a unique combination of clinical features. In both hands, reduction of certain phalanges is evident. Radiological examination shows synostosis of third and fourth metacarpals bearing single phalanges. The first three toes are webbed, with hypoplastic terminal phalanx in all the toes. Besides Cenani-Lenz syndactyly, the phenotype segregating in our family is the second well-documented autosomal recessive, non-syndromic syndactyly. A phenotype similar to our family was described in a Turkish kindred but was considered to be a homozygous expression of type I syndactyly. Since the clinical features in our family had minimal overlap with syndactyly types I, II, and III, we have performed microsatellite marker screening to look for the cosegregation of this phenotype with any of the known loci for these respective types. We show that the phenotype in our family is not linked to chromosomal regions 2q34-q36, 2q31, and 6q22-q23 encompassing loci for syndactyly types I, II, and III.

Adult↗
PubMed2005

Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): a possible role for vitamin K deficiency.

BACKGROUND: Binder syndrome is a maxillonasal dysostosis characterized by midface and nasal hypoplasia, sometimes associated with short terminal phalanges of fingers and toes and transient radiological features of chondrodysplasia punctata. Warfarin- or phenytoin-induced vitamin K deficiency during early pregnancy is a well-established etiology for this syndrome, which occurs nevertheless sporadically in most cases. CASE(S): We describe here the first case, to our knowledge, of Binder syndrome in a child whose mother presented with biliary lithiasis in early pregnancy. The mother proved to have a decrease in clotting factors II, VII, and X, and in prothrombin time, at 11 weeks of gestation, which was highly suggestive of vitamin K deficiency. CONCLUSIONS: The biliary lithiasis-induced vitamin K deficiency in early pregnancy is likely to have resulted in Binder syndrome. This observation should prompt physicians to carefully check for vitamin K deficiency in pregnant women presenting with biliary lithiasis, in order to prevent Binder syndrome in the fetus by providing intravenous vitamin K supplementation as soon as possible. Finally, reassuring genetic counseling regarding the genetic risk for future pregnancies is to be provided to the parents.

Biliary Tract↗
PubMed2006

Reproducibility of foot structure measurements in neuropathic diabetic patients using magnetic resonance imaging.

PURPOSE: To assess the intra- and interobserver agreement of commonly reported foot structure measurements in diabetic patients with neuropathy using magnetic resonance imaging (MRI). MATERIALS AND METHODS: In 23 neuropathic diabetic patients and five age-matched healthy controls, sagittal-plane MR images of the forefoot were obtained to assess joint configuration and plantar fat-pad thickness on two different occasions by the same observer and once by a different observer. The degree of intrinsic muscle atrophy was scored from coronal plane images on two different occasions by two observers. RESULTS: The intraclass correlation coefficients (ICCs) between occasions and between observers were >0.94. The mean differences (bias) and the limits of agreement (LoA = mean +/- 2 SDs) were small for the metatarsal-phalangeal (MTP) joint angle, toe angle, and plantar fat-pad thickness (bias </= 0.8 degrees or 0.2 mm, LoA </= 3.8 degrees or 0.8 mm), but larger for interphalangeal joint angles (bias </= 3.4 degrees , LoA </= 8.8 degrees). The weighted kappa for intrinsic muscle atrophy was 0.94. CONCLUSION: Static foot structure data can be assessed reliably using MRI. Because changes in foot structure contribute to the development of foot ulcers in neuropathic patients, MRI may be a useful technique to assess risk of ulceration in these patients.

Aged↗
PubMed1993

Early transabdominal chorionic villus sampling in couples at high genetic risk.

OBJECTIVE: The purpose of the study was to evaluate the feasibility and safety of transabdominal chorionic villus sampling before 9 weeks' gestation. STUDY DESIGN: Two hundred pregnancies at risk for beta-thalassemia (n = 198) or Duchenne muscular dystrophy (n = 2) underwent transabdominal CVS at 6 through 8 weeks. Sampling success and fetal loss are expressed in percentages. RESULTS: Sampling was successful in all cases (100%). Forty-eight fetuses were affected by beta-thalassemia and one by Duchenne muscular dystrophy. The percentage of fetal loss, expressed as a proportion of continuing pregnancies, was 4.0%. All women (n = 144) have been delivered, and no misdiagnoses have occurred. We observed one anencephalus and one mild limb defect consisting of absence of distal phalanges of index and little fingers of both hands and distal phalanges of both little toes. CONCLUSION: Transabdominal CVS before 9 weeks is a reliable and relatively safe method for prenatal diagnosis in patients at high risk for genetic diseases. However, further studies are necessary to assess the risk to the fetus.

Adult↗
PubMed1995

Gorlin-Chaudhry-Moss or Saethre-Chotzen syndrome?

We report a 2-year-old girl with craniosynostosis, an ossification defect of the cranial vault, midface hypoplasia, low frontal hairline, anti-mongoloid slant of the palpebral fissures, ptosis of the lateral upper lids and high-arched narrow palate. There are additional findings fitting the Gorlin-Chaudhry-Moss syndrome, such as hypoplasia of the labia majora, hypoplasia of the distal phalanges of fingers and toes and conductive hearing loss, but hypertrichosis and dental anomalies are missing, which were described in the four females previously reported with the probably autosomal recessive Gorlin-Chaudhry-Moss syndrome. Since the autosomal dominant Saethre-Chotzen syndrome may show similar cranio-facial features, short fingers with non-obligatory cutaneous syndactyly, and ossification defects of the cranial vault, the Saethre-Chotzen syndrome should also be considered in our patient.

Abnormalities, Multiple↗
PubMed1983

Pachydermoperiostosis: scintigraphic, thermographic, plethysmographic, and capillaroscopic observations.

A unique case of pachydermoperiostosis, multiple epiphyseal dysplasia, and secondary osteoarthritis is described. An additional interesting feature was the presence of acroosteolysis of the distal phalanges of fingers and toes. Scintigraphic, thermographic, plethysmographic, and capillaroscopic studies suggested increased blood flow through clubbed fingers, raising the possibility that this may play a role in the pathogenesis of pachydermoperiostosis.

Capillaries↗
PubMed1988

The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.

First cousins, related through their mothers, showed a pattern of craniofacial, brain, and limb anomalies consistent with the acrocallosal syndrome. Both patients had a defect of the corpus callosum, macrocephaly with a protruding forehead and occiput, hypertelorism, non-horizontal palpebral fissures, a small nose, notched ear lobes, and postaxial polydactyly of the hands. The boy, in addition, had hypospadias, cryptorchidism, inguinal hernias, duplication with syndactyly of the phalanges of the big toe, and a bipartite right clavicle. The girl had an arachnoidal cyst, a calvarian defect, and digitalisation of the thumbs. Motor and mental development was retarded in both patients. This observation provides further evidence of probable autosomal recessive inheritance of the acrocallosal syndrome and widens the spectrum of clinical findings and the variability of features in this rare malformation syndrome.

Abnormalities, Multiple↗
PubMed1994

Two fetuses with Fryns syndrome without diaphragmatic defects.

We report two fetuses with Fryns syndrome including the typical facial appearance and distal limb and lung hypoplasia, but no diaphragmatic hernias. The parents were consanguineous. Characteristic in both cases were the distal limb defects with brachytelephalangism and aplasia of the distal phalanges of the first toe. Since one of the two sibs had severe lung hypoplasia without macroscopic or microscopic defects of the diaphragm, we show that lung hypoplasia can occur independently from diaphragmatic defects in Fryns syndrome.

Abnormalities, Multiple↗
PubMed1993

Adams-Oliver syndrome: cutis marmorata teleangiectatica congenita with multiple anomalies.

A 1-year-old female with the following multiple congenital anomalies is described: large vascular plaques on the scalp with atrophy and ulcerations, cutis marmorata and dilated veins on the trunk and extremities, short toes with partially missing phalanges and nails, retro- and micrognathia, strabismus convergens and atrial septal defect. These anomalies are characteristic of the Adams-Oliver syndrome, a rare autosomal dominant neuroectodermal syndrome which may be a maximal variant of van Lohuizen's syndrome (cutis marmorata teleangiectatica congenita).

Abnormalities, Multiple↗
PubMed2000

Fracture of an interphalangeal coalition: a report of two cases.

Congenital coalition of the middle and distal phalanges in the fifth toe are common. They have been reported to occur in up to 50% of American and European populations and in up to 73% of people of Japanese descent. Congenital interphalangeal coalition of the other toes is less common. We report two cases of fracture through an interphalangeal coalition following blunt trauma. Diagnosis was delayed in these fractures. One fracture healed only after prolonged immobilization and the other developed a delayed union. Patients with this fracture should be advised of the prolonged convalescence since this may delay their return to preinjury activities.

Adult↗
PubMed1988

Keller arthroplasty in combination with resection arthroplasty of the lesser metatarsophalangeal joints in rheumatoid arthritis.

We reviewed the results of the Keller arthroplasty in combination with resection arthroplasty of the forefoot in patients with rheumatoid arthritis. Of the 29 patients (49 feet) in the series, 20 had involvement of both feet and nine had involvement of a single foot. The average age of the patients was 55.4 years, and the average follow-up period was 4.9 years. All feet had resection of the lesser metatarsal heads, resection of the base of the proximal phalanges of the lesser toe, and a Keller arthroplasty of the first metatarsophalangeal joint. The results were satisfactory in 16 feet, satisfactory with some reservations in 21 feet, satisfactory with major reservations in seven feet, and unsatisfactory in five feet. For 40 of the 49 feet (82%), the patients stated that they would repeat the procedure, knowing the results achieved. The major causes of patient reservations and lack of satisfaction were return of the hallux valgus deformity and pain (53%), forefoot instability (27%), and continuing metatarsalgia (20%). Resection arthroplasty of the lesser metatarsophalangeal joints of the forefoot in rheumatoid disease is a satisfactory procedure. When used in combination with Keller resection arthroplasty of the first metatarsophalangeal joint, however, an increased number of unsatisfactory results occur, attributable to returning pain and deformity of that joint.

Adult↗
PubMed1992

Reconstruction of the burned thumb.

The thumb accounts for 40 to 50% of hand function. Reconstruction of soft-tissue contractures include release and coverage with skin grafts or various local, regional, distant, or free flaps. Thumb length, so important for prehension and opposition, can be restored by phalangealization, pollicization, or toe-to-thumb transfer. Secondary techniques such as metacarpal distraction-lengthening or osteoplastic reconstruction are rarely indicated.

Burns↗
PubMed1986

[Coffin-Siris syndrome in a 5-year-old girl].

A 5 1/2 year old female patient with Coffin-Siris syndrome is described. This syndrome is characterised by multiple congenital anomalies and mental retardation. The important clinical features include postnatal growth retardation, microcephaly, considerable psychomotor retardation, coarse facies with thick lips, sparse scalp hair with hypertrichosis of the face and body, as well as hypoplasia or even aplasia of distal phalanges of fingers and toes. Chromosomal aberrations, which could be considered as differential diagnosis are excluded by the finding of a normal karyotype. The aetiology or pathogenesis of this syndrome are not really known.

Abnormalities, Multiple↗