Familial recurrent dislocation of patella with autosomal dominant mode of inheritance

Recurrent dislocation of the patella is considered to be a manifestation of generalized joint laxity. An autosomal dominant mode of inheritance was previously suggested in a few instances; however, male-to-male transmission has not yet been reported. We report a recurrent dislocation of the patella occurring in five generations of one family with male-to-male transmission and without generalized joint laxity.     

Ehlers-Danlos syndromes: Revised nosology,Villefranche, 1997

Categorization of the Ehlers-Danlos syndromes began in the late 1960s and was formalized in the Berlin nosology. Over time, it became apparent that the diagnostic criteria established and published in 1988 did not discriminate adequately between the different types of Ehlers-Danlos syndromes or between Ehlers-Danlos syndromes and other phenotypically related conditions. In addition, elucidation of the molecular basis of several Ehlers-Danlos syndromes has added a new dimension to the characterization of this group of disorders. We propose a revision of the classification of the Ehlers-Danlos syndromes based primarily on the cause of each type. Major and minor diagnostic criteria have been defined for each type and complemented whenever possible with laboratory findings. This simplified classification will facilitate an accurate diagnosis of the Ehlers-Danlos syndromes and contribute to the delineation of phenotypically related disorders. Am. J. Med. Genet. 77:31–37, 1998. © 1998 Wiley-Liss, Inc.     

Marfan syndrome: a diagnostic dilemma

During a 17-year period (1971-1988), the Marfan syndrome was diagnosed in 66 patients seen through the Department of Human Genetics, Medical School, University of Cape Town. Following reappraisal and application of the Pyeritz criteria, this diagnosis was confirmed in 33. Of the others, 17 with tall stature and a Marfanoid habitus had insufficient additional manifestations for firm diagnosis and were eliminated from the series. Sixteen had Marfanoid habitus, tall stature, arachnodactyly and other abnormalities which might have indicated the presence of a different syndrome. The difficulty in making a clinical diagnosis of the Marfan syndrome is stressed and emphasizes the need for a biomolecular marker.     

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): A Brazilian case

This is a report on a Brazilian patient with spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL; MIM 271640), a rare autosomal recessive skeletal dysplasia characterized by dwarfism, articular hypermobility, progressive intractable spinal malalignment, a typical facies and a propensity to joint dislocation and subluxation. The condition has been described only in 20 children of Afrikaans-speaking parents in South Africa. This is the first report of a non-Afrikaans patient with this genetic entity. © 1996 Wiley-Liss, Inc.     

Familial crossed polysyndactyly

We have observed a distinct form of “crossed” polysyndactyly in 6 generations of a family with 5 affected persons, all males. The polydactyly is postaxial in the hands and preaxial in the feet. Syndactyly in the hands is observed in some relatives, while syndactyly in the feet is present bilaterally in all affected relatives. This seems to be an autosomal dominant trait with male to male transmission over 3 generations by examination and an additional 3 generations by history. This form of polysyndactyly could not be readily categorized by the existing classification by Temtamy and McKusick [1978: BD OAS XIV 6:363–392]. We review and expand the present classification of polydactyly and syndactyly syndromes. © 1994 Wiley-Liss, Inc.     

Familial congenital brachial palsy

Eight relatives in a Sicilian family, including a sibship of 5, were affected with severe unilateral congenital brachial palsy (CBP) in a pattern suggesting autosomal dominant inheritance with reduced penetrance (6 cases affected on the right, 2 on the left). X-linked inheritance with expression in heterozygous females cannot be excluded.     

Hereditary congenital posterior dislocation of radial heads

We report on 4 patients with congenital posterior dislocation of radial heads in 3 generations of a family. Radiographs of the elbow joints of 3 individuals are presented. All affected subjects have mild limitation of extension and a strong restriction of rotation in the elbows. Comparison with previously described patients shows similarities in the X-ray findings. Congenital posterior dislocation of the radial head can be unilateral or bilateral. This malformation is also found in patients with antecubital pterygium or nailpatella syndrome. This family confirms the autosomal dominant inheritance of congenital posterior dislocation of radial heads. © 1995 Wiley-Liss, Inc.     

Familial dermographism

Urticaria in response to various physical stimuli has been reported in sporadic and familial patterns. The most common of these physical urticarias, dermographism, is a localized urticarial response to stroking or scratching of the skin and has not been reported previously to be familial. A four-generation family with dermographism, probably inherited as an autosomal dominant trait, is presented along with a discussion of sporadic dermographism and other types of familial physical urticarias.     

Familial cushing disease

A 28-year-old woman and her niece presented with manifestations of the Cushing syndrome. Endocrine studies, including small- and large-dose dexamethasone-suppression tests confirmed the diagnosis of pituitary ACTH excess. The first patient had a sella of normal size and went into clinical and hormonal remission after external pituitary irradiation, and she has remained well on follow-up for 9 years. The niece had an enlarged sella turcica on tomography and is receiving a course of external pituitary irradiation.     

Familial syndactyly type III—report of a large pedigree

McKiernan MV, McCann JJ. Familial syndactyly type III—report of a large pedigree. Clin Genet 1993: 44: 270–271. © Munksgaard, 1993
We present a pedigree containing 14 cases of familial syndactyly of the ring and little finger (Type III syndactyly). Three of these were treated surgically in this unit, and a fourth had previously been treated elsewhere by the senior author of this paper. Analysis of the pedigree confirms the autosomal dominant nature of the genetic defect, while clinical study reveals variable phenotypical expression. This is one of the largest pedigrees yet reported for this variety of syndactyly.     

Molecular and cytologic studies of Ehlers-Danlos syndrome type VIII

We present a family with findings of Ehlers-Danlos syndrome type VIII and a presenile appearance due to decreased subcutaneous tissue with drawn skin, defective wound healing, contractures, and thin hair. To investigate this syndrome, we studied collagen production and the growth properties of cultured fibroblasts taken from affected relatives. We could not find evidence of a collagen defect or premature senescence of cultured fibroblasts, although the fibroblasts may have a decreased growth rate. We conclude that this family has findings of EDS VIII and premature aging and propose that this overlapping phenotype is due to a single pathogenetic mechanism. Our studies of collagen production and fibroblast replication did not discern this mechanism.     

Familial colloid cysts of the third ventricle

A father and daughter with colloid cysts of the third ventricle are described. The nine previously reported examples of familial occurrence are reviewed, and the conclusion is reached that inheritance is likely autosomal dominant. The proportion of all cases which are genetic is not known. A plea is made for routine detailed and thorough family histories on all patients with such cysts and a high index of suspicion for non-specific symptoms in relatives such as headaches, migraine, depression, anxiety, nausea and vomiting.     

Aortic root dilatation in Ehlers-Danlos syndrome types I, II and III A report of five cases

We have identified five families in whom individuals affected with the Ehlers-Danlos syndrome (EDS) types I, II or III had aortic root dilatation (ARD). All propositi had a low upper/lower segment ratio but no other diagnostic skeletal or ocular features of Marfan syndrome. Their skin had the soft, velvety texture characteristic of EDS and all had significant joint laxity. Probands included a 4-year-old girl with EDS type I, 4-and 8-year-old girls with EDS type HI, a 35-year-old male with EDS type II, and a 51-year-old female with EDS type III. Review of these cases suggests the need for multicenter clinical studies in order to determine the prevalence and the rate of progression of ARD in EDS types I, II, and III. Such studies are necessary to determine whether echocardiograms (including measurement of aortic root diameter) should be considered on initial evaluation of all patients with mild forms of EDS.     

Familial Jarcho-Levin syndrome

Jarcho-Levin syndrome is a variety of autosomal recessive spondylocostal dysostosis characterized by severe deformity of the thoracic cage, leading to respiratory failure and early death. There are often associated dysmorphic features. The disease is more frequent in Puerto Ricans and rare in Europe. A Sicilian family with four affected individuals in two interrelated sibships is reported.     

Sagittal craniosynostosis,Dandy-Walker malformation,and hydrocephalus: A unique multiple malformation syndrome

The Dandy-Walker malformation and craniosynostosis have each been described as isolated occurrences and as components of multiple malformation syndromes. The purpose of this report is to delineate the characteristics of a multiple malformation syndrome of Dandy-Walker malformation and sagittal craniosynostosis. The inheritance pattern appears to be autosomal dominant. © 1993 Wiley-Liss, Inc.     

Familial intestinal polyatresia syndrome

Familial multiple-level intestinal atresia is a rare syndrome with autosomal recessive inheritance. Only a few well-documented families have been reported in the medical literature. In this article two new cases from a consanguineous couple are presented. These are the first reported cases of Familial Intestinal Polyatresia Syndrome from Turkey. The importance of this report is that the recognition of multiple intestinal atresias as an invariably fatal syndrome will be helpful for genetic counselling and attempts at early prenatal diagnosis for successive pregnancies in these couples.