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Biomedical subjects

J W Spranger

Publications and source records attributed to J W Spranger.

At least 19 recordsLinked to original sources
PubMed2005

A disorder resembling pseudoachondroplasia but without COMP mutation.

Pseudoachondroplasia (PA) is an autosomal dominant skeletal dysplasia characterized by disproportionate short stature, generalized ligamentous laxity, irregular epi-metaphyseal ossification, and vertebral anomalies that regress with age. It usually manifests in the second year of life or later. The clinically and radiographically variable disorder is caused by mutations in the COMP gene. Parental gonadal mosaicism may lead to recurrence of the disorder in children of unaffected parents. Here, we describe sibs with bone changes similar to those seen in very severe PA born to clinically and radiographically unaffected parents. Sequencing of all 19 exons of the COMP gene failed to disclose a mutation. The sibs appear to be affected by a disorder resembling PA but resulting from a defect of an extracellular matrix protein other than COMP. It may be suspected in patients with unusually severe dwarfism, severe epi-metaphyseal abnormalities, and persistent platyspondyly.

Achondroplasia↗
PubMed2004

A new type of autosomal recessive spondyloepiphyseal dysplasia tarda.

Repeated occurrence of a hitherto unrecognized form of spondyloepiphyseal dysplasia tarda (SED tarda) has been studied in two independent families. Because parental consanguinity was also present in one family, autosomal recessive inheritance is proposed. The onset was in late childhood. The slowly evolving disorder shared several features of the already known types of SED tarda. The radiographic abnormalities were limited to the spine and proximal femora. The patients' hands were normal. The entity described is set apart not only from the X-linked and autosomal-dominant forms of SED tarda but also from the already delineated autosomal recessive types by significant clinical and radiographic differences. Final genotypic characterization must await the results of genetic linkage studies and of appropriate molecular genetics investigations.

Adolescent↗
PubMed1998

Previously undescribed syndrome of spondylometaphyseal dysplasia, osteocartilaginous metaplasia of long bones, and progressive osteolysis of distal phalanges.

We present the findings and clinical course of a Caucasian woman (now age 23 1/2) who has been treated since early childhood for a previously undescribed syndrome of painful osteocartilaginous metaplasia of long bone metaphyses and painful distal phalangeal osteolysis and soft tissue swelling. Despite extensive evaluations and attempts at effective treatment, the cause and pathogenesis of her unique musculoskeletal disorder remain elusive.

Abnormalities, Multiple↗
PubMed1997

Vitamin K deficiency embryopathy: a phenocopy of the warfarin embryopathy due to a disorder of embryonic vitamin K metabolism.

Three unrelated infants presented with radiographic punctate calcifications, nasal hypoplasia, and abnormalities of the spine. Additional anomalies included cupped ears in 2 patients and one each with Dandy-Walker malformation with hydrocephaly, congenital cataracts, and peripheral pulmonary artery stenosis. The mothers of these 3 patients had chronic conditions associated with intestinal malabsorption requiring total parenteral nutrition for varying periods of time. The underlying causes of malabsorption were celiac disease, short bowel syndrome secondary to surgical resection, and jejuno-ileal bypass, respectively. Bleeding diathesis occurred in one mother requiring vitamin K supplementation during the second and third trimesters of pregnancy. We speculate that the chondrodysplasia punctata and other abnormalities in these children were caused by an acquired maternal vitamin K deficiency manifested during early pregnancy. However, the involvement of other vitamin deficiencies cannot be excluded. Thus, vitamin K deficiency of the embryo secondary to maternal malabsorption appears to be a third vitamin K-related mechanism leading to chondrodysplasia punctata in addition to warfarin embryopathy and epoxide reductase deficiency (pseudo-warfarin embryopathy).

Abnormalities, Drug-Induced↗
PubMed1991

Sibs with a disorder resembling Blount disease (tibia vara).

Radiographic investigation of 3 Turkish sibs presenting with bowed legs disclosed physiological tibial bowing in the 7-month-old girl. Stage I Blount disease in the 26 month-old boy and Stage II Blount disease in the 45 month-old girl. The reported cases provide evidence for autosomal recessive inheritance. This observation points to genetic heterogenity, i.e. the existence of 2 genetically different, but radiologically indistinguishable disorders.

Child, Preschool↗
PubMed1987

Sedaghatian congenital lethal metaphyseal chondrodysplasia--observations in a second Iranian family and histopathological studies.

In 1980, Sedaghatian described in two brothers and one sister a neonatally lethal disorder associated with slight rhizomelic limb shortness, mild platyspondyly, and severe metaphyseal dysplasia. Here data are presented on another Iranian infant with the Sedaghatian syndrome who died on day 4 and was found to have histologic evidence of severe epimetaphyseal dysplasia. The occurrence in children of both sexes in one instance, born to normal parents who were first cousins, and currently apparent confinement of the disorder to Iranians suggests that the Sedaghatian syndrome is an autosomal recessive trait with high gene frequency in Iranians. This may be a more complexly pleiotropic syndrome than suggested by the roentgenograms, since one of Sedaghatian's patients also had "microphthalmia, asymmetry of ears, depressed nasal bridge, broad nose, short neck, prominent sternum, and short lower extremities."

Bone and Bones↗
PubMed1985

An autosomal dominant syndrome of short stature with mesomelic shortness of limbs, abnormal carpal and tarsal bones, hypoplastic middle phalanges, and bipartite calcanei.

This paper describes seven persons in a family affected with an autosomal dominant syndrome of short stature with mesomelic shortness of upper and lower limbs, abnormal carpal and tarsal bones, hypoplastic or absent middle phalanges of hands and feet, and delayed coalescence of bipartite calcanei. All affected relatives are of normal intelligence, are free of eye problems, and have a normal skull, spine, shoulders, and hips. The digits of the hands and feet are short, broad, and angulated. The hypoplastic or absent middle phalanges effectively result in one interphalangeal joint for each digit, with decreased mobility. The bones of the carpus and tarsus coalesce with increasing age. None of the previously described syndromes or brachydactylies encompasses the findings noted in this kindred.

Abnormalities, Multiple↗
PubMed1983

The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.

We report 17 cases of the campomelic syndrome (CS) and a follow-up of one of the original patients of Maroteaux et al who is now 17 years old. Our review is based on 97 patients, including our own. An infant with the CS presents at birth with spectacularly short and bowed femora and tibiae. The initial chest radiograph confirms the diagnosis by demonstrating extremely small bladeless scapulae and hypoplastic pedicles of many thoracic vertebrae. Ossification of the sternal segments, pubis, talus, and knee epiphyses is also retarded. Usually the hips are dislocated and talipes equinovarus deformities are present. There is a small chondrocranium and a disproportionately large neurocranium. The bell-shaped chest, narrow superiorly, does not explain the degree of respiratory distress that soon ensues. Narrow airways from defective tracheo-bronchial cartilage can often be demonstrated on the radiograph, but micrognathia, retroglossia, cleft palate, hypoplastic lungs, and even CNS-based hypotonia contribute to the respiratory problem. Internal anomalies include frequent absence of olfactory bulbs and tracts and dilatation of cerebral ventricles, heart defects (PDA, VSD, stenosis of aortic isthmus), hydroureter and hydronephrosis, renal hypoplasia, renal hypoplasia, and rarely renal cysts.

Abnormalities, Multiple↗
PubMed1980

Campomelic dysplasia. Further elucidation of a distinct entity.

Campomelic dysplasia is a distinct entity that should not be confused with other conditions associated with congenital bowing of the long bones. Evidence suggests that some affected males have female external genitalia, and vagina, uterus, and fallopian tubes. Examination of a newly reported sibling pair has increased support for autosomal recessive inheritance in campomelic dysplasia.

Bone Diseases, Developmental↗
PubMed1980

Cerebroarthrodigital syndrome: a newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, brain malformation and digital hypoplasia.

We describe three patients with a complex syndrome of apparent arthromyodysplasia, dyscephaly, sacral agenesis, and hypoplastic digitis. Cause is unknown, but an environmental cause is suspected on the basis of ergotamine exposure in one case and diazoxide intake in another, together with suggestive similarities to anomalies seen in animals treated with these drugs and to calves with the Australian hydranencephaly/arthrogryposis syndrome caused by Akebane or Aino virus. Pathogenetically the primary defect may be a neural tube-neural crest dysplasia with multiple secondary and tertiary manifestations and deformities.

Arthrogryposis↗
PubMed1979

Familial congenital bowing with short bones.

The case reports of 2 brothers with congenital bowing and short broad bones are discussed. In this apparently new familial bowing syndrome, the rhizometic portions of the limbs are more severely involved, particularly the femora. In early infancy the metaphyses are moderately flared and irregular, but these improve dramatically during childhood. Clinical abnormalities are limited primarily to the thorax. Prognosis appears good except for the persisting disproportionately short stature. These 2 patients may resemble one or both patients previously reported by Khajavi et al. under the label of short-limbed campomelic syndrome, normocephalic type (1).

Age Factors↗