Distal arthrogryposis type II D in three generations of a Brazilian family

We report on three members of a Brazilian family with distal arthrogryposis type II D. This autosomal dominant trait was described by Hall et al [1982] and is characterized by scoliosis without associated vertebral anomalies and distal contractures. To the best of our knowledge, this family is the second literature report of distal arthrogryposis type II D.     

The distal arthrogryposes: Delineation of new entities – review and nosologic discussion

We report on 44 patients (18 with additional affected family members), with con genital distal limb contractures identified from a large study of over 350 patients with congenital joint contractures. Fourteen propositi (seven familial cases, seven isolated cases) had a newly recognized form of arthrogryposis, which we have designated distal arthrogryposis type I, with the predominant manifestations of autosomal dominant inheritance; tightly clenched fists at birth, with medially overlapping fingers, ulnar deviation, and camptodactyly in adults; and positional foot deformities. Contractures at other major joints are variable. There are no associated visceral anomalies; intelligence is normal. There can be marked intrafamilial and interfamilial variability. Twenty-two propositi with similar distal contractures had additional findings and were classified into five subcategories of distal arthrogryposis (type IIA-E). Among type II patients cleft palate, cleft lip, small tongue, trismus, ptosis, epicanthal folds, keratoconus, short stature, scoliosis, a unique hand position, and dull normal intelligence were seen. These characteristics were seen in various combinations and patterns and allowed sorting into groups that were the basis for the categorization. The remaining eight propositi were recognized to have previously described conditions with distal contractures and autosomal dominant inheritance, ie, the Freeman-Sheldon syndrome, trismus-pseudocamptodactyly syndrome, congenital contractual arachnodactyly, and familial camptodactyly. Pathogenetically we postulate similar underlying defects of abnormal tendon attachments, attenuation, and absence; careful nosologic comparisons are important for prognostic counseling and habilitative management.     

Distal arthrogryposis type II: a family with varying congenital abnormalities

Five family members with distal arthrogryposis in two generations are reported. Cleft lip and palate, micrognathia, ptosis, webbed neck, kyphoscoliosis, and short stature are seen in one or more affected family members. All individuals with distal arthrogryposis also have trismus. This family does not fit any of the recently proposed five subcategories of type II distal arthrogryposis, nor does it fit any other recognized autosomal dominant condition with distal contractures.     

Familial distal arthrogryposis with craniofacial abnormalities: a new subtype of type II?

We report on 5 relatives in 3 generations with an apparent new type of distal arthrogryposis. These individuals have manifestations of type I distal arthrogryposis, but in addition, have craniofacial anomalies that include facial asymmetry, hypertelorism, downslanting palpebral fissures, high nasal bridge, malar hypoplasia, micrognathia, highly arched palate, notched chin, and posteriorly angulated ears. Their intelligence is normal. Although these manifestations preclude us from placing this family in the type I (isolated) distal arthrogryposis category, we also are unable to place them in any of the recognized subtypes of type II distal arthrogryposis. Thus, we think this family may have a previously undescribed form of autosomal dominant type II distal arthrogryposis.     

DEB test for Fanconi anemia detection in patients with atypical phenotypes

We describe four members spanning three generations of a Caucasian family affected with distal arthrogryposis (DA). Based on Hall's original classification, we have placed our family under type IIB and present previously unreported ophthalmic features. All the members had different degrees of ophthalmoplegia, ptosis, astigmatism, and strabismus. Other findings in affected family members included keratoconus in the index patient, which was associated with abnormal electron microscopy of the affected cornea and increased thickness of the central cornea, small axial length of the globe and choroidal folds in the others.     

A family with Duane anomaly and distal limb abnormalities: a further family with the arthrogryposis-ophthalmoplegia syndrome

A two-generation family is reported in which three members have Duane anomaly and distal limb abnormalities. All three affected have photopic electroretinogram responses that are abnormal or at the lower limit of the normal range with normal scotopic responses. Two affected family members also have hearing loss. The likeliest diagnosis is the syndrome listed as "arthrogryposis-ophthalmoplegia syndrome" on the London Dysmorphology Database or as "arthrogryposis with oculomotor limitation and electroretinal abnormalities" or "oculomelic aplasia" in OMIM [MIM 108145]. In view of the similarities with Okihiro syndrome, a search for mutations within the SALL4 gene was undertaken, but none were identified.     

Unique unbalanced X;X translocation (Xq22;p11.2) in a woman with primary amenorrhea but without Ullrich-Turner syndrome

The index case was a Maori bushman who presented with severe congenital spinal stenosis and manifestations of distal arthrogryposis. His offspring and 8 of his 9 sibs and most of their offspring were interviewed and examined. Of those examined 7 individuals with definite and 2 with probable distal arthrogryposis were identified in 4 of the families. A tenth relative with distal arthrogryposis and contractural arachnodactyly had died. There was marked variability in the severity and nature of manifestations with 2 having severe hand and foot involvement in addition to craniofacial changes compatible with a diagnosis of Freeman-Sheldon syndrome. Other apparently unrelated hereditary disorders in the family included ectrodactyly, biliary atresia, and Brachmann-de Lange syndrome. This is the first report of arthrogryposis in a Maori family. © 1995 Wiley-Liss, Inc.     

Distal arthrogryposis 5: a dominant syndrome of peripheral contractures and ophthalmoplegia

A four-generation family with distal arthrogryposis 5 is described. All affected members had limitations of ocular motility and some had ptosis. Restrictive lung disease is a feature in most affected patients in this family. It is possible that this syndrome may be due to a muscle abnormality.     

产前诊断先天性多发性关节挛缩症的探索

先天性多发性关节挛缩症(arthrogryposis multiplex congenita,AMC)是一种少见的先天性疾病,产前诊断先天性多发性关节挛缩症更是罕见,国内仅有极少数例报道。我们最近报道2例,除2个或以上关节屈曲,挛缩外,其中1例的一些体征,如小下颌,颈蹼,颈部皮肤增厚,积水(水肿),上下肢蹼状畸形等国内未见报道;结合国外学者产前诊断的相关文献报道,提出先天性多发性关节挛缩症的超声产前诊断和鉴别要点,超声产前诊断先天性多发性关节挛缩症进行有价值的探索。     

Distal arthrogryposis type 1: Clinical analysis of a large kindred

We describe the clinical findings of 15 individuals in a large kindred affected with distal arthrogryposis type 1A (DA1A). The most consistent findings among individuals were overlapping fingers at birth, abnormal digital flexion creases, and foot deformities, including talipes equinovarus and vertical talus. There was marked intrafamilial variation in the expression of DA1A. Linkage mapping of the locus for DA1A suggests that the use of strict diagnostic criteria excludes unaffected individuals rigorously, but can produce incomplete ascertainment of affected individuals. In the context of an affected family, the range of phenotypes consistent with a diagnosis of DA1A needs to be expanded. © 1996 Wiley-Liss, Inc.     

Marden—Walker syndrome versus isolated distal arthrogryposis: Evidence that both conditions may be variable manifestations of the same mutated gene

In this report we present evidence that Marden-Walker syndrome and isolated distal arthrogryposis may be variable manifestations of the same entity.
We describe the clinical and pathological findings in two affected siblings, the first two children of normal, non-consanguineous parents. The first child, a female, presented a typical Marden–Walker syndrome with Dandy–Walker type CNS malformation, corpus callosum hypoplasia and enlarged ventricles. In the second pregnancy, echographic examination revealed joint contractures of the hands and feet. Feto-pathological examination revealed a normocephalic male fetus with severe distal arthrogryposis. There was no facial dysmorphism and pathological examination of the brain, the spinal cord and muscle was normal.     

Extending the spectrum of distal arthrogryposis

We describe a mother and son with multiple, non-progressive, congenital contractures, camptodactyly and absent flexion creases, expressionless face, blepharophimosis, microstomia, and short stature. Although these cases share similarities with the autosomal-recessive Schwartz-Jampel and Marden-Walker syndromes, they have a different mode of inheritance and lack myotonia, one of the most characteristic findings of the Schwartz-Jampel syndrome. Our cases most closely resemble those previously reported as distal arthrogryposis type IIb, although in our patients the proximal joints are severely affected and extraocular involvement is absent. Hearing loss is present in one and cleft palate in the other of our patients; these findings were previously described in arthrogryposis syndromes other than type IIb. We suggest extending the spectrum of distal arthrogryposis to include these manifestations, since there appears to be significant overlap between the different syndromes. © 1996 Wiley-Liss, Inc.     

Tibial muscular dystrophy with late adult onset in a Spanish family

PURPOSE: We report autosomal dominant distal muscular dystrophy in 5 members of a Spanish family. INTRODUCTION: This unusual muscular disorder has late adult onset and predominantly it affects the anterior compartment of the legs. This myopathy presented clinical and electromyographical characteristics, but unspecific histological findings. Early there have appeared genetical studies, the most frequently used is chromosome linkage, but it is not an absolute criterion for diagnosis, and it is not available in most hospitals. PATIENTS DESCRIPTIONS: In our cases walking difficulties appeared between the fourth and fifth decades, characterized by progressive and varied weakness with amyotrophy in the tibial anterior compartment. The electromyography confirmed the presence of a severe non-inflammatory myopathy, chronic and symmetric in the pretibial muscles and of less intensity in the calf muscles. The levels of creatine phosphokinase were normal and muscle biopsy identified a chronic, unspecific lesion with important fibrosis. CONCLUSIONS: The findings, although with some phenotypical differences, were those commonly found in Markesbery-Griggs disease, tibial muscular dystrophy or late onset type 2 distal myopathy. We report a family affected by this muscular disorder, we describe the differential diagnosis and we discuss the review of the available literature.     

Nosology of fetal hypokinesia sequence based on CNS abnormalities: is there an Aase-Smith syndrome?

Aase-Smith syndrome (ASS) is usually defined as a dominantly inherited combination of arthrogryposis, Dandy-Walker malformation and cleft palate. We describe a sporadic case of foetal akinesia with abnormal fossa posterior, fitting the diagnosis of ASS, and discuss the nosology of this entity among syndromes with distal arthrogryposis. ASS shows a "hybrid" phenotype: adults with mild ASS could be classified as distal arthrogryposis, whereas severely affected newborns overlap with the Marden-Walker phenotype, which is recessively inherited. The specificity of the disorder comes from the coexistence of both forms in the same pedigree, so that ASS appears impossible to diagnose with certitude in sporadic cases. We suggest that the severe expression of ASS is only the extreme but aspecific expression of a dominantly inherited form of distal arthrogryposis. Implications for genetic counselling in distal arthrogryposis are outlined.     

Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.

Arthrogryposis multiplex congenita is a heterogeneous condition and many different types are clinically recognisable. Recently, a new type of autosomal dominant arthrogryposis was described in a father and son. We report on a male patient with similar clinical features, confirming this distinct type of arthrogryposis. The condition is characterised by congenital contractures of the hands and feet with diminished or absent phalangeal creases, ophthalmoplegia, a rigid trunk, deep set eyes, and (in the oldest patient) an abnormal electroretinogram. Differential diagnosis from amyoplasia, the different types of distal arthrogryposis, and symphalangism is discussed.     

Report on the fifth international conference on neuronal ceroid-lipofuscinoses

Distal arthrogryposis IIB is characterized by contractures of the distal joints (especially of the fingers and toes) and ptosis. We recently encountered a father and son with these manifestations. The father was reported 54 years ago as a case of amyoplasia congenita (arthrogryposis multiplex congenita). Both father and son have distal joint contractures, most severe in the hands and feet, as well as ptosis and ophthalmoplegia. In addition, these patients have an unusual distribution of hair loss, and conical teeth. Whether these latter findings are related to the type of distal arthrogryposis present in this family is not known. In spite of their physical limitations both father and son have maintained an active life-style. © 1995 Wiley-Liss, Inc.     

An unusual distal arthrogryposis

We report on a mother and her dizygotic twin fetuses who were affected with distal arthrogryposis. In addition the mother has cervical vertebral anomalies, scoliosis, short stature, nuchal and axillary pterygia, and unusual facial appearance. The fetuses had a short neck, pterygium colli, retrognathia, and mild apparent scoliosis. We think that these three individuals have a previously undescribed type of distal arthrogryposis.     

A dominantly inherited form of arthrogryposis multiplex congenita with unusual dermatoglyphics

A father and daughter with arthrogryposis multiplex congenita and similar dermatoglyphic patterns are described. No evidence was found of chromosomal abnormality, neuropathy or myopathy, and there were no other affected family members. The findings are compatible with autosomal dominant inheritance.     

Presymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers.

The close genetic linkage between the loci for apolipoprotein CII (ApoCII) and myotonic dystrophy makes presymptomatic detection and prenatal diagnosis feasible. We report three years' service experience of providing presymptomatic detection and prenatal diagnosis for myotonic dystrophy in 99 families. Careful clinical study of older family members remains important. The introduction of new probes (CKMM and BCL4) has helped to solve the problem of uninformativeness owing to unhelpful genotype distribution in a family. Nevertheless, informativeness cannot be guaranteed and families should be studied before pregnancy is undertaken whenever possible. Presymptomatic testing and prenatal diagnosis for myotonic dystrophy are soundly based. All affected subjects should have DNA banked for future use when other family members may require genotype information.     

Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence

We report on a familial case of Pena-Shokeir syndrome type I (fetal akinesia deformation sequence) born to healthy parents. The antenatal ultrasound diagnosis was based on hydramnios, restricted limb movements, decreased fetal chest movements, small chest, arthrogryposis, clubfoot, fixed extension of knees, fixed flexion of elbows, camptodactyly, kyphosis of thoracic spine, cryptorchidism, and small muscle bulk. Thymic hyperplasia was noted at autopsy.