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At least 19 recordsLinked to original sources
PubMed1991

[Shwachman syndrome. Exocrine pancreatic insufficiency, growth retardation, peripheral dysostoses and neutropenia].

Since the second year of her life a now 32-year-old woman had growth retardation and recurrent diarrhoea, caused by exocrine pancreatic insufficiency. During intermittent treatment with pancreatic enzymes the diarrhoea ceased and she gained weight. In the course of the illness she had to undergo several orthopaedic operations. Radiological examinations had revealed metaphyseal dysostoses. At the age of 14 years the marked growth retardation stimulated further clinical investigation. The growth retardation, compensated exocrine pancreatic insufficiency and peripheral dysostoses established the diagnosis of Shwachman syndrome, although there was no neutropenia. The severe exocrine pancreatic insufficiency, confirmed by pancreatic function tests, was probably compensated by extrapancreatic lipases, and pancreatic enzyme substitution therefore was unnecessary.

Adult↗
PubMed1989

Acrofacial dysostoses.

A female baby was born with phocomelia, bilateral cleft lip and palate, marked micrognathia, malar hypoplasia, absence of lower eyelids, and absence of external ears. Radiological examination showed hypoplastic pectoral and pelvic girdles, short humeri and femora, with absence of forearms and legs, and oligodactyly of upper limbs. Her mother has triphalangism of the left thumb and a hypoplastic right thumb with stiff metacarpophalangeal joint. She also has downward-slanting palpebral fissures, malar hypoplasia, and deepset eyes. This observation offers an opportunity to revisit the acrofacial dysostoses syndromes, including Nager-Reynier syndrome, Genée-Wiedeman syndrome, and lethal forms.

Abnormalities, Multiple↗
PubMed1985

François' syndrome. An intermediate between mandibulofacial and craniofacial dysostoses.

Because of the presence of microphthalmos and cataract and the absence of auricular deformations the François syndrome belongs to neither the craniofacial nor the mandibulofacial dysostoses. TeleXray measurements revealed forward dislocation of the mandibular joint. A proposal to speak of basocraniofacial dysostosis in the cases of Hallermann-Streiff-François is made.

Cataract↗
PubMed1985

[Dysostoses and postural limb abnormalities in rapidly growing dogs].

Congenital and acquired dysostosis was studied on two litters of Great Danes. One litter of puppies were descendants of dogs with normal hips, the other of dysplastic animals. Both litters were fed according to NCR standards, the second however ad libitum. One puppy of parents with normal hips demonstrated already with 6 weeks epi- and metaphyseal dysostosis and severe angular deformities of the thoracic and pelvic limbs. Hip dysplasia was diagnosed in three of five puppies from dysplastic dogs. In addition, one puppy showed Wobbler symptoms. The extent and frequency of the alterations were, in comparison to earlier investigations, unexpectedly high. It can be assumed that the examined dogs were genetically predisposed for dysostosis. Our therapeutic procedures are presented.

Animals↗
PubMed1986

A Bayesian method for the estimation of penetrance: application to mandibulofacial and frontonasal dysostoses.

We describe a Bayesian method of estimating penetrance from genealogical data. It consists of calculating the likelihood of the data alone to make inferences about penetrance without sample space considerations. The method is applied to mandibulofacial dysostosis giving a penetrance of 0.908 with 0.95 credible interval of [0.809; 0.972] and to frontonasal dysostosis giving a penetrance of 0.670 with 0.95 credible interval of [0.457; 0.851].

Craniofacial Dysostosis↗
PubMed1987

The craniofacial dysostoses: guidelines for management of the symmetric and asymmetric deformities.

Although great diversity marks the craniosynostoses, our experience related to that from other centers allows us to draw certain conclusions for their management. For the asymmetric synostoses, operative intervention should be carried out in infancy or early childhood. Although the unilateral approach is our preferred method, the bilateral approach can yield equally satisfactory results. Surgeons should, therefore, familiarize themselves with both methods and individualize for the given deformity. Mild symmetric (upper face) synostoses are best managed in infancy or early childhood, utilizing bilateral orbital advancement with the expectation that the need for additional major surgery will be at worst 50 per cent and likely significantly less. For moderate to severe synostoses, delaying major intervention to later childhood or adolescence maximizes the chance of obtaining a satisfactory result by a single procedure, either an extended LeFort III or monoblock advancement. Individualization of each case is essential, and the need for brain and eye protection or the psychologic needs of the patient may dictate a modification of the treatment guidelines. Patients and parents must be aware that growth and development subsequent to surgery is not entirely predictable, and there may be a need for a second major intervention at a subsequent time, despite these established guidelines.

Acrocephalosyndactylia↗
PubMed1986

Fibular a/hypoplasia: review and documentation of the fibular developmental field.

Fibular aplasia and/or hypoplasia is documented as a developmental field defect and the extent of the fibular developmental field is delineated. The term fibular a/hypoplasia denotes the clinical spectrum of fibular deficiency in different patients and also implies that aplasia can be present in one limb and hypoplasia in the other. Causal heterogeneity of fibular a/hypoplasia is demonstrated, thereby defining it as a developmental field defect. Most cases of fibular a/hypoplasia are isolated, sporadic events. An autosomal dominant form of isolated fibular a/hypoplasia with ankle joint anomaly is reviewed. Fibular a/hypoplasia may be part of more complex sporadic dysostoses; sporadic syndromes, an aneuploidy syndrome; several autosomal dominant and autosomal recessive conditions. Fibular a/hypoplasia is also postulated to occur as a result of disruption or teratogenic insult; in animals, fibular development can be disturbed by radiation, busulfan, and retinoic acid. Clinical data allow evaluation of the extent of the fibular developmental field of the lower limb. This appears to include the pubic portion of the pelvis, proximal femur (distal half being apparent tibial developmental territory), patella, anterior cruciate ligament, and lateral and/or axial foot rays (but "never" the hallux and almost never associated with polydactyly). The rare cases of fibuloulnar dimelia allow confirmation of the well known homology of mesomelic limb segments responsible for concordant ulnar and fibular (and radial and tibial) defect, if both upper and lower limbs are involved in a given condition. Because fibular a/hypoplasia is the commonest of the mesomelic paraxial hemimelias, is usually nonsyndromal, and in most cases is apparently nongenetic (ie, with negligible recurrence risk), we propose that in humans, as in several other tetrapods, the fibula is undergoing regressive evolution and hence is developmentally especially labile.

Female↗
PubMed1990

Acrofacial dysostosis with ambiguous genitalia.

We report on a 46,XY infant with mandibulofacial dysostosis, preaxial and postaxial limb anomalies, urethral stenosis with left hydronephrosis, and ambiguous genitalia with phallic/scrotal transposition. This infant with atypical pre/postaxial acrofacial dysostosis (AFD) is the first to be reported with ambiguous genitalia. The acrofacial dysostoses are a heterogenous group of disorders characterized by varying degrees of mandibulofacial dysostosis with acral limb defects and may represent a polytopic field defect. These disorders have generally been separated on the basis of their limb anomalies into preaxial, postaxial, lethal, and atypical types. Most cases are sporadic, but various causes have been postulated including autosomal dominant and recessive inheritance, a chromosome 2q duplication, and a possible case of diabetic embryopathy. We review the nonfacial/limb anomalies in other cases of AFD and compare them to those of our case, thereby expanding the spectrum of anomalies in these disorders.

Abnormalities, Multiple↗
PubMed1992

Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: a new autosomal recessive syndrome.

We report on 5 unrelated Brazilian children with short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. Genetic aspects and phenotypic manifestations are compared with those of previous reports of acrofacial dysostoses and with other Robin sequence syndromes. We suspect that these patients present a previously undescribed autosomal recessive syndrome.

Abnormalities, Multiple↗