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At least 235 records · Page 13Linked to original sources
PubMed1993

Brachymorphism-onychodysplasia-dysphalangism syndrome.

Three unrelated children are reported with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area, large mouth, pointed chin), microcephaly, hypo/aplasia of the terminal fifth digits, and (sub)normal intelligence. Radiological findings include hypo/aplasia or fusion of the distal phalanges of the fifth finger and toe, brachymesophalangism V, and nail dysplasia or aplasia. One child had cystic adenomatoid disease of the lung. The pattern of anomalies presented by these children closely resembles a syndrome incompletely delineated in 1971 by Senior in six children, which has often been considered to be a mild form of Coffin-Siris syndrome. We suggest that this is an independent entity (BOD syndrome). The aetiology is still unknown. Differential diagnosis and nosological difficulties are discussed.

Abnormalities, Multiple↗
PubMed1991

Oculodentodigital syndrome: report of a case.

The clinical and radiographic changes in a case of oculodentodigital syndrome are presented. The characteristic features of this rare developmental disorder, microphthalmus with microcornea and iris anomalies, hypertelorism, thin nose with hypoplastic alae and anteverted nostrils, syndactyly with camptodactyly and clinodactyly of the fourth and fifth fingers associated with bony anomalies of the middle phalanges of the fifth fingers and toes, were all present. In addition, histological examination of a lateral incisor showed the enamel dysplasia to be due to enamel hypoplasia; the dentine also showed marked hypocalcification. There were widespread pulp denticles and hypercementosis throughout the dentition. Both the patient and his mother had coronoid hypoplasia.

Adult↗
PubMed1989

[Raynaud syndrome. A case report].

Symptomatology, diagnosis, treatment, and clinical course of a Raynaud syndrome in a sixteen-year old patient beginning in the second year of his life are described. He lost all distal phalanges of both hands and big toes at the age of nine. Remarkable was the laboratory finding of an extremely high serum IgE concentration. A combined therapy of plasmapheresis, immunosuppression and corticosteroids improved the clinical and laboratory findings.

Adolescent↗
PubMed1985

[Angiomatosis of bone--report of two cases].

Primary angiomatosis of bone is a rare bone tumor. Only 26 cases have been reported previously in literature. The authors add two cases in this paper. In one of them the right calcaneus bone and distal phalanges of the first and second toes were involved, an occurrence not yet been described. From the clinical point of view, the authors made an attempt to put forward a criterion for distinguishing the two types of primary bone angiomatosis--angiomatosis and massive osteolysis. The first type was usually operable with good results. As for the second type, no proper therapy has been found but irradiation might relieve the symptoms and control the development of the tumor. The authors emphasize that the roentgenogram is too equivocal to diagnose and the definite diagnosis almost always depends upon histopathologic examination characterized by the formation of abundant capillaries or cavernous vessels or both.

Adult↗
PubMed1979

[Type A1 branchydactyly. Study of one family (author's transl)].

Five members of a kindred with type A1 brachydactyly were ascertained. The middle phalanges of the last four fingers were short, rudimentary or absent, and the proximal phalanges of the thumbs and great toes were shortened. Emergence of the brachydactyly in the children of an unaffected woman suggested the possibility of a half chromatid mutation or of a premutation. The pedigree was then consistant with autosomal dominant inheritance with complete penetrance for brachydactyly.

Fingers↗
PubMed1978

Jaccoud's arthropathy in patients with chronic rheumatic valvular heart disease.

In a prospective study over a period of 3 yr, involving all patients with rheumatic valvular heart disease seen at our hospital, we found the diagnostic signs of Jaccoud's arthropathy in 17 of 400 cases (4.2%). All 17 patients had a past history of acute arthritis involving the joints and showed deformities at the time of diagnosis. The valvular lesions were mitral and aortic in 11 cases, mitral in 5 cases and aortic in 1 case. The most frequent joint deformities were: ulnar deviation at the metacarpo-phalangeal joints (12 cases), lateral deviation at the metatarso-phalangeal joints (12 cases), and hammer toe deformity (6 cases). The deformities were reducible in all of them. None of the patients had pain or signs of acute inflammation and functional capacity was normal. Other causes of joint deformity were ruled out by means of radiographic and serologic studies. Jaccoud's arthropathy is not a rare entity and its recognition is important for a differential diagnosis with chronic arthritis of other etiologies, also associated with valvular heart lesions.

Adolescent↗
PubMed1980

The Coffin-Siris syndrome: a case report.

A 5-month-old female with the Coffin-Siris syndrome is described. Characteristic features included prenatal and postnatal growth retardation, slight mental retardation, feeding and respiratory problems, microcephaly, hypotonia, full lips, congenital heart disease, hypoplasia of the distal phalanges of the fifth fingers and toes. She underwent successful primary closure of a ventricular septal defect at 8.5 months of age, weighing 5.0 kg. After the operation, the feeding and respiratory problems disappeared, and growth and development were well maintained.

Abnormalities, Multiple↗
PubMed1997

Familial broad terminal phalanges with one individual showing additional anomalies.

We describe a family with four relatives showing broad terminal phalanges (BTP) of the fingers and toes. One also had mental retardation, an unusual facial appearance, cleft palate with bifid uvula, and gingival hyperplasia. The BTP anomaly in this family seems to be transmitted as an autosomal dominant trait.

Abnormalities, Multiple↗
PubMed1989

The independent long extensor tendon of the fifth toe as a source of tendon grafts for the hand.

The anatomical relationships of the extensor of the fifth toe to the long extensor of the other toes have been studied in 78 cadaver specimens. 50% of the specimens had an independent extensor to the fifth toe without interconnections to the other long toe extensors or the peroneus tertius. The independent fifth toe extensor was consistently of good quality and adequate length for use as a tendon graft, for which purpose it has been successfully used in five patients, with transfer of the adjacent long extensor from the fourth toe to maintain extension of the fifth metatarso-phalangeal joint.

Hand↗
PubMed2003

A skeletochronological study of growth, longevity, and age at sexual maturity in a population of Rana latastei (Amphibia, Anura).

Longevity and age at sexual maturity in an Italian population of Rana latastei were studied by skeletochronology performed on the phalanges. Frogs collected in 1998 and 1999 by drift fences and pitfall traps were marked by toe-clipping. After marking, individuals were released and the cut phalanges were processed for skeletochronological analysis. The maximum age so far recorded was 3 years in males and 4 years in females. The smallest male and female that were sexually mature on the basis of histological analysis of the gonads were 36 and 35 mm snout vent length (SVL), respectively. In both sexes, most individuals were estimated to breed shortly after emergence from their first overwintering. Among the European Brown Frogs, Rana latastei appears to be one of the shortest-lived and one of the first to reach sexual maturity.

Animals↗
PubMed2001

[Toe phasic posture reflex: description and distribution among patients with neurological disease and in the general population].

A clinical sign is described consisting of a brief extension of the toes after upward tapping of the plantar surface of their terminal phalanges. Electrological data support the hypothesis of a long loop reflex, which we call the "toe phasic posture reflex" (TPPR). In a preliminary study, this sign was observed in patients with central nervous system disease, especially in subcortical brain disorders regardless of etiology. In Parkinson's disease, it was seen mostly in severe and postural forms. Among 237 healthy subjects, it was observed in none of those under 70 years old (n=116), and in 10p. cent of those over 69 years and doing no sport (n=132), but in none of those doing regularly gymnastics or swimming (n=29). TPPR could thus be a sign of motor and especially postural aging.

Adult↗