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Biomedical subjects

L O Langer

Publications and source records attributed to L O Langer.

At least 37 records · Page 2Linked to original sources
PubMed1987

Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study.

Clinicopathologic examination of eight patients with asphyxiating thoracic dysplasia (Jeune; ATD) disclosed two different types, which were designated as type 1 and type 2. Type 1 ATD was characterized by the presence of radiologically irregular metaphyseal ends and histopathologically irregular cartilage bone junction with patchy distribution of physeal zone of hypertrophy. Type 2 ATD showed radiologically smooth metaphyseal ends and histopathologically diffusely retarded and disorganized physes with smooth cartilage bone junctions. Examination of four patients with the "Verma-Naumoff" short rib-polydactyly syndrome showed many radiologic and pathologic features similar to those of type 1 ATD. Differential diagnosis of these three osteochondrodysplasias is discussed along with chondroectodermal dysplasia (Ellis-van Creveld), short rib-polydactyly syndrome type 1 (Saldino-Noonan), short rib-polydactyly syndrome type 2 (Majewski), and the new short rib syndrome reported by Beemer et al [1983].

Asphyxia Neonatorum↗
PubMed1986

A new skeletal dysplasia: clinical, radiologic, and pathologic findings.

Two siblings, one male and one female, were noted to have a distinct skeletal dysplasia. The clinical and radiographic features resemble those observed in Kniest dysplasia and Rolland-Desbuquois syndrome, but important differences were noted. Specifically, these two patients have microstomia, "pursed" lips, and ectopia lentis, and their radiographs reveal no coronal clefts. Chondro-osseous features also differ from those observed in either of the other disorders. Scattered dense patches consisting of collagen fibers 10 to 30 times broader than normal are seen scattered throughout the cartilage matrix; the "Swiss cheese" appearance characteristic of Kniest dysplasia is not observed. These patients appear to have a new skeletal dysplasia, most likely inherited in an autosomal recessive fashion.

Bone Diseases, Developmental↗
PubMed1985

Narrow trachea in mucopolysaccharidoses.

Nine of 56 patients with mucopolysaccharidoses (MPS) showed small tracheal diameters on their frontal chest radiographs. Autopsy of an MPS I-H (Hurler disease) patient demonstrated that the small calibre was secondary to deposition of glycosaminoglycan (mucopolysaccharide). Autopsies of two patients with other storage diseases, one with geleophysic dysplasia and one with mucolipidosis II, also exhibited compromise of their airways because of storage material accumulation.

Adolescent↗
PubMed1984

Genetic heterogeneity in spondyloepiphyseal dysplasia congenita.

Two unrelated infants seen for evaluation of short stature at 14 and 27 months, respectively, had clinical and radiographic findings consistent with the diagnosis of spondyloepiphyseal dysplasia congenita (SED congenita). No other anomalies were noted. Both sets of parents were normal, both family histories were unremarkable, and neither couple was consanguineous. Both families were counseled that SED congenita is an autosomal dominant disorder and that sporadic cases probably result from new mutations; a low recurrence risk was given. Both families subsequently produced a second affected child. Our experiences suggest that genocopies of autosomal dominant SED congenita exist that are clinically and radiographically indistinguishable, at least within the first 3 years. Autosomal recessive inheritance seems most likely, although alternative explanations are possible. Genetic heterogeneity should be considered when providing genetic counseling for sporadic SED congenita in young children.

Child, Preschool↗
PubMed1984

The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature.

We report on four patients with tricho-rhino-phalangeal syndrome with exostoses (TRPSE) who were not mentally retarded and review 32 previously published cases. These data enable more complete delineation of the phenotype and document the variability of the clinical and radiographic manifestations. Information on the genetics and the association with del(8q) is discussed, as are management and avenues for further investigation. The apparent variability of intelligence in TRPSE patients together with the high incidence of other problems, including significant delay in speech development and hearing loss, make systematic multidisciplinary evaluation and long-term treatment necessary to achieve the best outcome.

Abnormalities, Multiple↗
PubMed1984

Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology.

Fibrochondrogenesis is a rare, neonatally lethal rhizomelic chondrodysplasia distinguished from other forms of lethal dwarfism by broad long-bone metaphyses, pear-shaped vertebral bodies, and by microscopic changes of cartilage with unique interwoven fibrous septa and fibroblastic dysplasia of chondrocytes. We report the second and third well-documented cases of this apparently autosomal recessive disorder and discuss the differential diagnosis.

Cartilage↗
PubMed1984

Renal-nonresponsive, bone-responsive pseudohypoparathyroidism. A case with normal vitamin D metabolite levels and clinical features of rickets.

Clinical signs of rickets developed in a previously healthy 13-year-old girl with normal features. She had hypocalcemia, hyperphosphatemia, elevated alkaline phosphatase and parathyroid hormone levels, and normal vitamin D metabolite levels, with osteitis fibrosa cystica on bone biopsy specimen. Her renal function was normal. Treatment with 1 microgram of calcitriol each day resulted in symptomatic and clinical relief and improvement of the serum chemical values. This patient probably has pseudohypoparathyroidism type 1, with renal nonresponsiveness and bone responsiveness. This disorder has the clinical features of rickets, but represents hyperparathyroid bone disease.

Adolescent↗
PubMed1983

A new short rib syndrome: report of two cases.

We describe two unrelated malformed infants who died shortly after birth and who had multiple congenital anomalies including hydrops and ascites, facial abnormalities (with median cleft of the upper lip), narrow thorax, protuberant abdomen, and short, bowed limbs. Postmortem radiographs showed very short ribs and disproportionately short long tubular bones; no metaphyseal abnormalities were present. Comparison with earlier described short-rib/short-rib-polydactyly syndromes suggest that the disorder present in our two cases is a new type of short-rib syndrome. One of our patients was born to a consanguineous couple; in a subsequent pregnancy, real-time ultrasonography in the second trimester showed that the female fetus had the same abnormalities as its sib. Diagnosis was confirmed after elective abortion. This suggests that this short-rib syndrome may be an autosomal recessive disorder.

Abnormalities, Multiple↗
PubMed1983

Brachymesomelia-renal syndrome.

We have studied a male Japanese infant with severe upper limb brachymesomelia, glomerulocystic renal dysplasia, abnormalities of the cranium and face, corneal opacities, and a possible congenital heart defect. He was born at term and died on the 10th day of heart and kidney failure. Review of the literature failed to show a similar case. Glomerulocystic renal dysplasia has been reported in association with a variety of the nonskeletal malformations but has not previously been described in association with bony malformations.

Abnormalities, Multiple↗
PubMed1983

Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study.

Brachyolmia recessive type (Hobaek) is a rare bone dysplasia characterized by short trunk dwarfism that becomes evident during childhood. The radiographic manifestations are primarily limited to the spine, and consist of universal platyspondyly with lateral extension of the vertebral bodies beyond the pedicles and irregularity of the vertebral end plates. Histologic changes seen on growth plate biopsy permit the diagnosis to be confirmed. The inheritance pattern appears to be autosomal-recessive.

Bone Diseases, Developmental↗
PubMed1983

Homozygous achondroplasia with survival beyond infancy.

Homozygous achondroplasia has been thought to be uniformly lethal in the neonatal period. We describe three children, born to achondroplastic parents, who were homozygous for this disorder but who survived beyond early infancy. Two died suddenly at 37 and 33 mo; the third survives at 29 wk. At least in some instances aggressive treatment may allow others with this condition to survive with a reasonable quality of life.

Achondroplasia↗
PubMed1982

Congenital generalized fibromatosis. Case report and literature review.

A typical case of congenital generalized fibromatosis (CGF) is presented and the literature on this entity is reviewed. CGF is a rare condition which is probably heritable. It is manifested in infancy. Because of the unusual biological behavior of the fibromata, two clinical courses occur--death, if vital viscera are involved, or regression of the lesions and survival without significant disability. Including the present example, 63 cases have been reported.

Bone Neoplasms↗
PubMed1980

A fetus with upper limb amelia, "caudal regression" and Dandy-Walker defect with an insulin-dependent diabetic mother.

We describe the fetus delivered to an insulin-dependent diabetic woman who had had a previous large, stillborn, non-malformed male infant and a normal female infant. The present fetus had a most unusual combination of malformations which to date had not been described in diabetic embryopathy. The anomalies include: upper limb amelia, "caudal regression" with bilateral absence of the fibulae, unilateral absence of a femur and ipsilateral oligodactyly; undescended testes; atrial septal defect; multiple vertebral and rib anomalies with cervical scoliosis and right webbed neck; left cleft lip and cleft palate; severe micrognathia; left microtia with atresia of the ear canal; and central nervous system defects including hydrocephalus with the Dandy-Walker malformation, asymmetry of the lateral ventricles, abnormal frontal gyral formation, and ependymal and ganglion cell heterotopias of the spinal cord. The pathogenesis of diabetic embryopathy is discussed.

Arm↗
PubMed1980

Acromesomelic dysplasia.

The radiographic features of acromesomelic dysplasia are presented, along with a summary of pertinent clinical features. They are thought to allow a diagnosis in affected individuals over six months of age. Since the condition has an autosomal recessive mode of genetic transmission and results in extremely short stature, the establishment of the diagnosis has practical importance.

Abnormalities, Multiple↗