We report the case of a Japanese boy whose dysmorphic features were consistent with those of Shprintzen-Goldberg syndrome. The radiological features were characterized by late-onset craniosynostosis, arachnodactyly, undermodeling of short tubular bones, mildly undermodeled and slightly bowed long bones, twisted ribs and tall vertebral bodies with elongated neural arches. Apart ...

Neck afferents not only assist the coordination of eye, head, and body, but they also affect spatial orientation and control of posture. This implies that stimulation of, or lesions in, these structures can produce cervical vertigo. In fact, unilateral local anesthesia of the upper dorsal cervical roots induces ataxia and ...

We describe a three-generation family with an autosomal dominant hidrotic ectodermal dysplasia consisting mainly of tricho- and onychodysplasia. One of the patients had supraventricular tachycardia, another had palpitations, and two others had sinus brachycardia. We consider that the clinical manifestations in this family differ significantly from those of the Clouston ...

We describe a mother with manifestations most consistent with the Rapp-Hodgkin type of ectodermal dysplasia and her malformed newborn son with ectrodactyly, ectodermal dysplasia, cleft palate, and bilateral cystic and obstructive ureteroceles with hydroureters and cystic renal dysplasia as described in the EEC syndrome. This observation suggests that the Rapp-Hodgkin ...

We report on a "new" syndrome in 2 unrelated children with some manifestations of Kniest dysplasia and with spine abnormalities suggestive of dyssegmental dysplasia. Glaucoma with important ocular impairment was associated with severe dwarfism. No mutation of the COL2A1 gene was detected. The inheritance of this new type of skeletal ...

We report a 4 year-old boy affected with hypohidrotic ectodermal dysplasia in whom loose anagen hair syndrome (LAHS) was suspected clinically. The diagnosis was confirmed by examination of hair by optic and scanning electron microscopy. Loose anagen hairs have not been previously described in the ectodermal dysplasias. It is possible ...

Mandibuloacral dysplasia is a rare syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, abbreviated, club-shaped terminal phalanges, acroosteolysis, atrophy of the skin over the hands and feet, and poikilodermatous skin changes. We describe the cases of two siblings with features of mandibuloacral dysplasia who as children were ...

Athletic trainers evaluate many athletes with acute and chronic shoulder problems such as rotator cuff pathology, impingement syndromes, and inflammatory conditions. They also need to be aware of more obscure reasons for shoulder pain and dysfunction. The purpose of this paper is to describe a rare congenital abnormality called glenoid ...

Frontometaphyseal dysplasia (FMD) is an uncommon genetic syndrome affecting bone and connective tissue. This condition is characterized by hyperostosis of the skull and prominence of the supraorbital ridges; long bones have flared metaphyses. Frontometaphyseal dysplasia is an X-linked dominant trait with more severe manifestations in males and with extreme variability ...

Ectodermal dysplasia syndrome (EDS) is a rare hereditary disease, with symptoms brought about by dysplasia of ectodermal tissue (such as skin, teeth, nails, and hair). This report details the cases of two siblings (41 and 43 year old sisters) with autosomal recessive and hydrotic EDS complicated by esophageal achalasia, postoperative ...

The knee joint of an adult male with a nail patella syndrome was examined by standard X-rays and by computerised tomography. The dysplasia of the femoral trochlea has a specific sign which distinguish it from the "common" dysplasia of the recurrent patellar luxation type: a straight line flatness of the ...

Mid-cervical kyphosis in diastrophic dysplasia (DD) with cord compression and weakness has been recognized for the last three decades. A strikingly similar situation exists in Larsen's syndrome (LS), an otherwise unrelated problem of weakness with lay joints and dislocations with typical facies. Forty patients with DD were studied of whom ...

The first symptoms of immunooseous dysplasia were growth retardation and myopia. Nephrotic syndrome was diagnosed at the age of 8 years. Skeletal roentgenograms showed spondyloepiphyseal dysplasia. In the renal biopsy there was nodular accumulations of PAS-positive hyaline material at the base of the granular stalks. There was lymphopenia with decreased ...

Commissural lip pits, pinna dysplasia, pre-auricular sinus and hearing loss constitute a recently described autosomal dominant branchial arch syndrome. In a large family, eight out of the 74 members were also affected by conductive hearing loss. No inner ear abnormalities could be demonstrated on the CT scans. In three patients ...

An 11-year-old boy with short stature, dysplastic epiphyses, and vertebral abnormalities was thought to have spondyloepiphyseal dysplasia. He was subsequently found to have epiphyseal dysplasia secondary to congenital hypothyroidism. The radiographic findings in longstanding congenital hypothyroidism and spondyloepiphyseal dysplasia are compared and a possible mechanism for the dysplasia of hypothyroidism ...

In this one patient with McCune-Albright syndrome are seen a multitude of endocrinopathies--more than in any case previously described. Only fibrous dysplasia with café-au-lait spots and/or endocrine hyperfunction are required for the diagnosis of the syndrome. Our patient has polyostotic fibrous dysplasia, café-au-lait spots, and at least four primary endocrinopathies. ...

A 28-year-old female presented with a left trochlear nerve palsy, after indirect head trauma, with no fracture or orbital lesion. She had diplopia, a hypertropia and excyclotropia on right downgaze. Three months later the trochlear palsy had been replaced by Brown's syndrome: a deficit of elevation in adduction, with diplopia, ...

Spondylothoracic dysplasia (STD) syndrome or the Jarcho-Levin syndrome has been seen commonly in Puerto Ricans. A case of STD syndrome in a Chinese baby which we believe is the first reported case in an Asian baby is reported. The skeletal disorder syndrome affecting the spine, ribs and thorax is an ...

The McCune-Albright syndrome, comprising polyostotic fibrous dysplasia, cutaneous pigmentation and endocrine hyperfunction, is occasionally complicated by acromegaly due to a pituitary adenoma. We report a patient with the McCune-Albright syndrome and acromegaly, who developed secondary hypothyroidism and hypoadrenalism, in whom surgical removal of the pituitary tumour was technically difficult. A ...

A 2-year-old amerasian male with anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine Syndrome) was admitted for status epilepticus and Mycobacteria avium-intracellulare infection. A computed tomography scan of the head revealed a mass thought to be a subdural hematoma. The patient died following overwhelming Mycobacteria avium-intracellular and Pseudomonas aeruginosa sepsis. Autopsy revealed extensive extramedullary ...

We present a male infant with campomelic dysplasia syndrome (McKusick 21197) in whom no bowing of the tibiae or femora was seen, but widely set nipples and long upper segment of the arm were observed. In accordance with two previous case reports, the present findings suggest that a campomelic dysplasia ...

We describe 27 individuals of 7 families related to each other with high probability who showed manifestations of ectodermal dysplasia and other anomalies affecting females as severely as males with variable expressivity. All parents were normal. These families were detected in a relatively isolated and inbred population with very small ...

A 36 day-old male with typical features of Alagille syndrome presented at birth additional features consistent with the diagnosis of caudal dysplasia sequence: imperforate anus, rectourethral fistula, lumbosacral abnormalities, and dysplastic right kidney. The association of these 2 conditions has not been previously reported, and could indicate the existence of ...

Ectodermal dysplasias are a large and heterogeneous groups of clinically and genetically distinct syndromes. We studied a family suffering from dystrophies of the distal part of the nails and trichodysplasia. Scalp, beard, pubic and axillary hair were broken off leaving a stubble 1-10 mm in length. Eyebrows, eyelashes and body ...

This study of 22 patients with the McCune-Albright syndrome examined the scintigraphic distribution of fibrous dysplasia. The most frequently affected areas were the base of the skull (82% of patients), mandible (50%), facial bones (45%), femora (59%), and legs (64%). The least frequently affected areas included the hands (none), wrists ...

Mesomelic dysplasia is a form of short-limb dwarfism characterized by disproportionate shortness of the middle segment of all limbs. Included in this category of skeletal disorders is the Nievergelt syndrome, which typically manifests a rhomboidal shape of the tibiae and fibulae, an unusual foot deformity, radioulnar synostosis, and dysplasia of ...

Ectodermal dysplasia syndromes are currently classified based on constellations of clinical features, a major one of which is the presence or absence of normal sweating. The evaluation of sweating in these disorders has not been performed in a standardized manner, as is shown here in this literature review of a ...

A syndrome of patellofemoral dysfunction, consisting of painful popping, catching, grinding, or jumping of the patellar component, can complicate total knee replacement. From October 1983 to March 1988, eleven of 635 total knee replacements had this syndrome. On arthroscopic evaluation, the dysfunction of the patellofemoral articulation was found to be ...

Trichothiodystrophy appears to represent a central pathologic feature of a specific hair dysplasia associated with several disorders in organs derived from ectoderm and neuroectoderm. The key finding is brittle hair with low sulfur content, but alternating dark and light bands under polarizing microscopy, trichoschisis, and absent or defective cuticle are ...

The hair of patients with three ectodermal dysplasias--ectrodactyly ectodermal dysplasia clefting syndrome (EEC); orofacial-digital syndrome (OFD) type I; and anhidrotic ectodermal dysplasia syndrome (AED)--were studied by scanning electron microscopy. While no pathognomonic abnormalities were noted for each condition, hair shaft structural defects were evident in all patients studied. The EEC ...

Inherited epidermal dysplasia (IED), formerly called baldy calf syndrome, is a lethal disease of calves of Holstein-Friesian ancestry. The disease causes progressive illthrift and skin, horn and hoof lesions, which can be confused with inherited zinc deficiency. The clinicopathological features and ancestry of 10 affected calves in Gippsland, Victoria are ...

Although almost any spinal deformity can occur in any skeletal dysplasia, there are specific spinal problems in each disorder that require periodic assessment and a particular awareness. Atlantoaxial instability frequently accompanies spondyloepiphyseal dysplasia congenita and Morquio's syndrome. Severe progressive kyphoscoliosis is found in diastrophic dysplasia. Although scoliosis can be found ...

We describe a 2-year-old girl with virtual absence of body and scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of feet, and unusual facial appearance. This combination of findings is not similar to that of any of the previously described ectodermal dysplasia syndromes and may represent a new disorder.

A sporadic case of camptodactyly and arthropathy is described in a 54-year-old man. Polyepiphyseal dysplasia complicated by the so called "chondrodysplastic rheumatism" was a main feature of the arthropathy which included early onset osteoarthritis, calcium pyrophosphate dihydrate and calcium phosphate deposition diseases. We suggest that epiphyseal dysplasia, chondrocalcinosis and mixed ...

The magnetic resonance (MR) demonstration of a pituitary adenoma associated with McCune-Albright syndrome is presented. A useful role for routine MR imaging of the sella turcica in all cases of clinically suspected McCune-Albright syndrome is suggested. This is especially important in patients with leontiasis ossea secondary to polyostotic fibrous dysplasia ...

An unique autosomal recessive ectodermal dysplasia is present in 5 sibs from the Indian Ocean island of Rodrigues. The main manifestations are total congenital alopecia, bilateral congenital cataracts, and skin changes of the hands and feet including sclerodactyly, hyperkeratosis, contractures, and pseudoainhum formation. The phenotype differs from that of other ...

Hypoplastic-hypocalcified enamel of all permanent teeth and dysplasia of finger- and toe-nails were found in a 17-year-old Japanese male. Physical examination revealed no remarkable changes in skin, hair, sweat glands, bones, etc. Family history revealed the same abnormalities of teeth and nails in his mother's brother. A review of the ...

Cervical spondylosis is a generalized disease process affecting all levels of the cervical spine. Cervical spondylosis encompasses a sequence of degenerative changes in the intervertebral discs, osteophytosis of the vertebral bodies, hypertrophy of the facets and laminal arches, and ligamentous and segmental instability. The natural history of cervical spondylosis is ...

The anatomical anomalies that characterize septo-optic-dysplasia (deMorsier Syndrome) are variable and often subtle. We report imaging studies of nine patients with septo-optic-dysplasia which provide radiologic and ultrasonographic clues to this disorder. In addition, we propose that cerebral schizencephaly may be a component of the dysmorphogenesis that results in septo-optic-dysplasia. Septo-optic-dysplasia-schizencephaly ...

Outgrowth of normal chick limb bud mesoderm is dependent on the presence of a specialized epithelium called the apical ectodermal ridge. This ectodermal ridge is induced by the mesoderm at about the time of limb bud formation. The limbless mutation in the chick affects apical ectodermal ridge formation in the ...

Abnormalities in the upper cervical spine resulting in cervical myelopathy in patients with Down's syndrome have been well-documented. However, two adult Down's syndrome patients recently presented with cervical myelopathy secondary to abnormalities of the lower cervical spine. Because of this, 105 Down's syndrome patients with normal upper cervical spines were ...

The rigid spine syndrome is a condition characterized by a mild axial and proximal myopathy in which the fibrous shortening of spinal extensor muscles causes a marked limitation in flexion of the spine. This 10-year-old boy with rigid spine syndrome showed a progressive limitation in flexion of the cervical spine ...

Aplasia of the thumbs and great toes, and aplasia of terminal and dysplasia of middle phalanges with absence of nails were noted in the child of related parents, who died at the age of 3 months from cardiorespiratory insufficiency. This is the 7th case of an (AR) genetic syndrome called ...

The histopathology of growth cartilage of long bones was studied in two cases of chondroectodermal dysplasia (Ellis-Van Creveld syndrome), a case of short-rib polydactyly (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib polydactyly (SRP) type III (Verma-Naumoff syndrome), and a case with polydactyly without other skeletal abnormalities but with ...

Binder's syndrome or maxillonasal dysplasia is a malformation characterized by an extremely flat and retruded nose. Severe cases of the syndrome do also have a retrognatic maxilla often combined with an open bite deformity which demands a combined surgical solution with both maxillary osteotomy and secondary nose correction. The two-stage ...

We analyzed the metacarpophalangeal pattern profile (MCPP) on 16 individuals with diastrophic dysplasia and calculated a mean syndrome profile. Correlation studies confirm clinical homogeneity of the hand profile in diastrophic dysplasia. Discriminant analysis of individuals with diastrophic dysplasia compared with a sample of normal individuals produced a function of 3 ...

Craniofrontonasal dysplasia, a distinct malformation syndrome, is characterized by varying degrees of frontonasal dysplasia, craniosynostosis, and variable extracranial abnormalities--in particular, brittle nails with prominent longitudinal grooves or splitting. There is marked female preponderance and variable expressivity not only between males and females but also between females. However, mode of inheritance ...

Three patients with Walker-Warburg syndrome are reported. In all, severe hypotonia and ocular abnormalities were noted soon after birth, followed by a rapid increase of head size. Examination of the brain showed regions of complete agyria, cortical dysplasia of the cerebrum, cerebellar micropolygyria, marked hydrocephalus and aqueduct stenosis. In skeletal ...

The mesomelic dysplasias are a heterogeneous group of genetic disorders with predominant skeletal manifestations in the forearms and shanks. We have documented, over a thirteen-year period, the clinical and radiographic course of the condition in a boy with the Langer type of mesomelic dysplasia. It has been suggested that dyschondrosteosis ...

A fourth case of a newly recognized variant of ectodermal dysplasia is reported. This syndrome is characterized by bilateral apocrine hidrocystomas of the eyelid margins, hypodontia, palmar-plantar hyperkeratosis, and onychodystrophy. To our knowledge, this syndrome, with its striking ocular manifestations, has not been previously documented in the ophthalmic literature.