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PubMed1976

Pfeiffer syndrome: report of a family and review of the literature.

A 5-year-old boy and his father with Pfeiffer syndrome are described. They had acrocephaly, hypertelorism, antimongoloid slant of the palpebral fissures, protrusion of the eyes, large and broad nose, small mandible, irregularly placed teeth, additional upper canine, high-arched palate, partial syndactyly of fingers and toes, brachydactyly of toes, valgus deformity of hypertrophied triangular great toes, broad phalanges of the great toes and broad first metatarsals, accessory epiphyses lateral to the interphalangeal joint of the great toes, and normal intelligence. To our knowledge, this is the first family in which the syndrome is almost totally confined to the head and feet--it spares the upper limbs except for partial skin syndactyly between the fingers--and the third family showing inheritance through three successive generations suggesting an autosomal dominant mode of inheritance. The published papers are reviewed and the clinical and x-ray signs are tabulated.

Acrocephalosyndactylia↗
PubMedDate not supplied

Subungual osteochondroma: a diagnostic dilemma.

Osteochondroma is the most common skeletal neoplasm of all benign bone tumors. However, it rarely occurs subungually. In this location, the lesion may penetrate the skin, causing nail deformity, and can easily be misdiagnosed. We report two cases of subungual osteochondroma of the distal phalanges of the first toes with cutaneous penetration and discuss the clinical, histologic, and radiographic features and the treatment options.

Adolescent↗
PubMed1984

Bilateral delta phalanx of the proximal phalanges of the great toes. A report on an affected family.

The condition known as delta phalanx (or longitudinally bracketed epiphysis) is a rare congenital anomaly first described in 1964. The deformity consists of a triangular bone with an epiphysis running along the shortened side of the phalanx in a proximal to distal direction, making longitudinal growth of the digit impossible. Isolated hallux varus congenitus due to a delta phalanx of the proximal phalanges of both great toes is extremely rare: there have been only three such cases reported, two of which were in one family--the only report of a familial occurrence of this deformity. This present report details the occurrence of isolated bilateral hallux varus congenitus in four members of one family, a father and his three eldest children. All three children show bilateral delta phalanx of the proximal phalanges of both great toes. There are associated thumb nail anomalies, but no suggestion of polydactylism.

Adult↗
PubMed1980

The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Observations of three cases in one family.

The authors describe three cases of familial acrocephalosyndactyly (ACS) in two boys (9 and 3 years of age) and in their 7.5-year old sister. In addition, irregularities in skull and limbs were found in the 46-year old father as well as in two other children, i.e., two girls, 14 and 4 years of age. The mother (46 years-old) and the remaining four 4 boys (12-, 9-, and 7-years-old), as well as the youngest child, a son, 1-year-old) did not show any deviations. The diagnosis of the Saethre-Chotzen syndrome in six members of one family was based on the finding of a typical skull deformation (oxybrachycephalia), low hairline, flattened nasofrontal angle, lateral deviation of the nasal septum, facial dysmorphy, prolapse of upper eyelids, antimongoloid placement of palpebral fissures, protruding eyes, hypertelorism, dysmorphy of auricles, imperfect hearing, highly arched palate, improper dentition, and characteristic skin syndactyly of hands and feet. In addition, deformed chest, weight and height deficiency, significant mental retardation, as well as, in the boys, true cryptorchidism were found. Radiological examination showed, in all affected members of the family, intensified digitate impressions within the whole fornix of the skull, large and deep sella turcica, underdeveloped frontal bone and upper jaw bone, untypical syndactyly of hands and feet, and the partial bifid of distal phalanges of the great toes, not described previously in the Saethre-Chotzen syndrome. In the differential diagnosis, other forms of ACS, i.e., Apert, Vogt, Pfeiffer, Summitt, and Herrmann-Opitz syndromes, were not found. Manifestation of the described symptoms transferred autosomally, dominantly, and with a similar degree of expression in 6 of 11 members of one family, leads us to think that they are the consequence of a fresh mutation revealed in the father.

Acrocephalosyndactylia↗
PubMed2007

Morphological changes in pedal phalanges through ornithopod dinosaur evolution: a biomechanical approach.

The evolution of ornithopod dinosaurs provides a well-documented example of the transition from digitigrady to subunguligrady. During this transition, the ornithopod pes was drastically altered from the plesiomorphic dinosaurian morphology (four digits, claw-shaped unguals, strongly concavo-convex joints, phalanges longer than wide, excavated collateral ligament fossae, presence of sagittal ridge, and prominent processes for the attachment of tendons) to a more derived condition (tridactyly, modification of the unguals into hooves, phalanges wider and thinner than long, lack of collateral ligament fossae, loss of sagittal ridge and tendon attachment processes, relatively flattened articular surfaces). These changes are particularly noteworthy given the overall conservatism in pedal morphology seen across Dinosauria. But what are the functional consequences of these specific morphological transitions? To study them, we examine a wide range of pedal morphologies in four non-avian dinosaurs and two birds. Our analyses of the external morphology, two-dimensional models (using Finite Element Analysis), and internal bone structure demonstrate that this evolutionary shift was accompanied by a loss of digit mobility and flexibility. In addition, pedal posture was modified to better align the pes with the main direction of the ground reaction force, thus becoming well suited to support high loads. These conclusions can be applied to other, parallel evolutionary changes (in both dinosaurs and mammals) that involved similar transitions to a subunguligrade posture.

Animals↗
PubMed1995

Spatial dysmorphology of the foot in Apert syndrome: three-dimensional computed tomography.

Computer assisted medical imaging was used to define the spatial dysmorphology of the foot in three patients with Apert syndrome and to correlate that dysmorphology with ambulation and footwear. Thin slice (2 mm), abutting, high resolution axial computed tomography (CT) foot scans were obtained. The CT data were post processed, using Analyze, to generate three-dimensional surface shaded and volumetric reformations. The reformatted images were evaluated by a bone and joint radiologist to identify abnormalities of bone shape, size, and orientation, of joint morphology, and of the foot as a whole. Five consistent findings were observed among the three pairs of feet: (1) anomalous great toes with phalangeal and metatarsal pathology; (2) simple syndactyly of toes 2-5; (3) fusions between matatarsals; (4) tarsal coalitions; and (5) limitations in commercial footwear. One patient underwent bilateral fifth metatarsal wedge osteotomies to facilitate the wearing of shoes. The dysmorphology of the Apert foot is a combination of congenital malformations and postnatal deformations, secondary to progressive synostosis. Prophylactic foot surgery may be indicated in Apert patients to facilitate shoe fitting.

Acrocephalosyndactylia↗
PubMed2004

Osteoid osteoma: painful enlargement of the second toe.

Osteoid osteomas involving the phalanges of the toes are a rare occurrence. We report a case of an osteoid osteoma of the distal phalanx of the second toe which was treated successfully with surgical excision. Although soft-tissue swelling with a typical clinical history is suggestive of the diagnosis, differentiation from subacute infection is subtle and may ultimately depend on tissue analysis.

Adolescent↗
PubMed1988

An irreducible dislocation of the great toe. Report of two cases and review of the literature.

Irreducible dislocation of an interphalangeal (IP) joint of the great toe is a rare condition. Twenty-two cases including the present two cases are reported in available literature. Two different types are identifiable. In one type, where the ruptured volar plate is displaced into the joint space between two phalanges, the toe is slightly elongated, but the deformity of the toe is not so marked. In the other type, where the volar plate is completely displaced over the proximal phalangeal neck, the deformity of the toe is extreme as the IP joint is locked in hyperextension. In the former type, the dislocation is often misinterpreted to have been repositioned manually because of relatively slight deformity. In either type of dislocation, the volar plate is detached from both the distal and proximal phalanges, and so displaced into the joint, as to form a barrier to manual repositioning. Open reduction is mandatory.

Adult↗
PubMed1997

Macrodactyly of the feet and hands.

We reviewed the records of 16 patients with true macrodactyly and analyzed the typical clinical features and methods of treatment. Fourteen feet were involved in 13 patients (one was bilaterally affected). Three hands were involved in three patients. Clinically, all lesions in the hands and lesions in 11 of 14 feet involved the preaxial side. There was multiple digit involvement in two hands and 11 feet. Progressive macrodactyly (10 feet and two hands) was more common than the static type (four feet and one hand). Proximal involvement of the sole or palm occurred in seven feet and one hand; all cases were of progressive macrodactyly. Enlargement of the metatarsals or the metacarpals was frequent (11 feet and two hands). The growth behavior and extent of bony involvement were similar in patients with hand involvement and those with foot involvement. Fourteen patients had additional clinodactyly, either medial or lateral. The toes of eight feet had angular deformities in the sagittal plane; most were angulated dorsally. Nine patients underwent surgery and two had repeated surgery. The reduction procedures included debulking, ray resection, toe resection, phalangeal resection, and phalangeal epiphysiodesis; the corrective procedures included wedge osteotomy, interdigitalization, and split thickness skin graft. Of the nine patients surgically treated, five had good results and four had fair results. Of the seven patients without surgical repair, three had fair results and four had poor results. Surgical debulking, phalangeal resection, ray resection, and phalangeal epiphysiodesis produced significant improvement in macrodactyly of the feet and hands. Toe resection was not as beneficial.

Adolescent↗
PubMed2006

The relationship between nail- and distal phalangeal bone involvement severity in patients with psoriasis.

We aimed to investigate the relationship between nail involvement and joint manifestations and whether there was a correlation between nail psoriasis severity and bone manifestations in psoriatic patients without symptomatic psoriatic arthritis in plaque type psoriasis. Thirty-one patients with nail involvement (16 men, 15 women, mean age 45.29+/-18.73) and 39 patients without nail involvement (16 men, 23 women, mean age 38.41+/-17.33) were enrolled in the study. X-ray of the hands and feet with magnification were performed. The distal interphalangeal (DIP) joint and bone (tuft of terminal phalanx) were evaluated. A scoring method was performed on the patients with nail involvement. There was no difference in DIP joint involvement in patients with or without finger- and toenail involvement (p=0.085 and p=0.062, respectively). However, the prevalence of bone involvement was higher in patients with finger- and toenail involvement than without finger- and toenail involvement (p=0.039 and p=0.021, respectively). A positive correlation was also determined between finger- and toenail psoriasis severity and bone involvement severity (r=0.379, p=0.001 and r=0.288, p=0.015).

Adult↗
PubMedDate not supplied

Imaging and pathological correlation of soft-tissue chondroma: a serial five-case study and literature review.

The imaging findings (X-ray and MRI) and patterns of calcification of five patients with pathologically proven soft-tissue chondroma were correlated with histopathology. The size ranged from 0.5 to 3 cm. Four showed calcifications: curvilinear, punctuate, mixed curvilinear, and punctuate patterns, and the other one with a dystrophic or homogenous dense pattern showed hypointensity on T1- and T2-weighted MR imaging. Histopathology showed hyaline cartilage with nests of chondrocytes in the lacunae. Soft-tissue chondroma is a rare, benign soft-tissue tumor. It should be differentiated from other soft-tissue masses, especially malignancy.

Adolescent↗
PubMed2006

Daughter and her mildly affected father with Keipert syndrome.

A 10-year-old girl with characteristic features of Keipert syndrome (broad terminal phalanges, especially of the thumb and hallux, sensorineural deafness, unusual facial features, large head circumference, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, large head circumference, maxillary hypoplasia, and hoarse voice) are presented. The girl is the first reported female with this rare syndrome to date, and the fact that she probably inherited the disease from her father suggests an autosomal dominant pattern of inheritance.

Abnormalities, Multiple↗