Radial Ray Defects Research Articles

Tracheal agenesis with anomalies found in both VACTERL and TACRD associations

Tracheal agenesis (TA) was diagnosed by endoscopy after esophageal intubation in a 34-week newborn. Diagnosis, work-up, and management approach are discussed. Similar to previous reports, this case of tracheal agenesis presented with multiple associated defects found at autopsy. Tracheal agenesis had previously been reported as a part of the VATER (vertebral defects, anal atresia, tracheoesophageal fistula and/or esophageal atresia, radial dysplasia, renal defects) and VACTERL (VATER plus cardiovascular and limb defects) associations/syndromes. More recently, cases of TA have been reported with associated anomalies described as TACRD (tracheal agenesis/atresia, complex congenital cardiac abnormalities, radial ray defects, and duodenal atresia) association/syndrome. We present a case of TA with anomalies found in both VACTERL and TACRD associations, which support the speculation that both are different manifestations of a spectrum of mesodermal dysplasia.

Okihiro Syndrome

Okihiro Syndrome is the name given to an autosomal dominant, inherited congenital syndrome, characterised by Duane anomaly (a limitation in ocular mobility) and radial ray defects, ranging from thenar hypoplasia to complete absence of the thumb and radial dysplasia. Other associated anomalies include urino-genital and other skeletal spinal abnormalities and deafness. This paper illustrates the syndrome in two generations, i.e. father and two of his offspring and describes the therapeutic management of the radial dysplasia.

Radial defects and testicular dysfunction

We describe two unrelated male patients with radial ray defects and increased serum concentrations of follicle stimulating hormone due to testicular dysfunction. This combination of features has not previously been described. Several mouse genes are known to be involved in preaxial limb development and male fertility, suggesting that the combination of radial ray defects and testicular dysfunction may represent a new syndrome in humans. Abnormalities of spermatogenesis or sperm function may constitute an under-recognized feature of human multiple congenital malformation syndromes.

Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome

We report on a pair of monozygotic twins with probable Baller-Gerold syndrome (BGS). Twin A had severe coronal craniosynostosis. Twin B had right radioulnar and ipsilateral first metacarpal hypoplasia. Both had bilateral fifth finger clinodactyly. Assuming that the twins were truly monozygotic, a single genetic disorder (i.e., BGS) could explain the variable expression. Together the twins have the typical anomalies of BGS. The diagnosis was supported by the metacarpophalangeal profile (MPP) which confirmed hypoplasia of the first right metacarpal in Twin A and bilateral fifth finger brachymesophalangy in both twins. Furthermore, the MPP showed an unexpected abnormal lengthening of the first metacarpal (unilateral in Twin A and bilateral in Twin B), a previously undetected radial ray defect in BGS. These findings suggest the possibility that the MPP may assist recognition of mild cases of BGS such as those with apparently isolated craniosynostosis or isolated upper limbs defects.

DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q)

DK phocomelia (von Voss-Cherstvoy syndrome) is a rare condition characterized by radial ray defects, occipital encephalocoele, and urogenital abnormalities. Lubinsky et al. [1994: Am J Med Genet 52:272-278] pointed out similarities between this and the del(13q) syndrome. To date, all reported cases of DK phocomelia have been apparently normal chromosomally. We report on a case of DK phocomelia in which the proposita had normal lymphocyte chromosomes, but was mosaic in fibroblasts for del(13)(q12). Fibroblast chromosomes studies on other cases of DK phocomelia have not been reported: this raises the possibility that some cases of DK phocomelia may be somatic mosaics for del(13)(q12).

Muscular involvement in the Holt-Oram syndrome.

Holt-Oram syndrome is an autosomal dominant disorder characterised by radial ray and congenital heart defects. Recently, a gene for this disorder has been identified on chromosome 12q24.1, encoding a T...

VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): Mutation in the FAC gene

We present a dizygotic twin pair each with ventriculomegaly, a radial ray defect and multiple malformations in keeping with the VACTERL association. Molecular studies demonstrated that both are homozygous for IVS4 + 4 A-->T, a mutation in the Fanconi anemia complementation group C gene. This is the first molecular proof that VACTERL with hydrocephalus may be the result of severe Fanconi anemia.

Prenatal diagnosis of thrombocytopenia-absent radius syndrome.

Thrombocytopenia-absent radius (TAR) syndrome is an autosomal-recessive disorder characterized by a thrombocytopenia and a bilateral radial aplasia with normal thumbs. Only TAR syndrome, out of diseases which may present with radial aplasia, typically has normal thumbs. The prenatal diagnosis is rarely made. We report two observations of TAR syndrome diagnosed in utero in the sibling. The malposition of fetal hands detectable as soon as 11 weeks of gestation requires careful search for longitudinal limb defect of the forearm, especially radial ray defect. The radial aplasia is associated with numerous causes (chromosomal, teratogenic, genetic, multifactorial). The determination of fetal hematologic values revealing a thrombocytopenia allows the prenatal diagnosis of the index case of TAR syndrome.

Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p.

Fanconi anaemia (FA) is an autosomal recessive disorder characterized by progressive pancytopenia, short stature, radial ray defects, skin hyperpigmentation and a predisposition to cancer. Cells from FA patients are hypersensitive to cell killing and chromosome breakage induced by DNA cross-linking agents such as mitomycin C (MMC) and diepoxybutane (DEB). Consequently, the defect in FA is thought to be in DNA crosslink repair. Additional cellular phenotypes of FA include oxygen sensitivity, poor cell growth and a G2 cell cycle delay. At least 5 complementation groups for Fanconi anaemia exist, termed A through E. One of the five FA genes, FA(C), has been identified by cDNA complementation, but no other FA genes have been mapped or cloned until now. The strategy of cDNA complementation, which was successful for identifying the FA(C) gene has not yet been successful for cloning additional FA genes. The alternative approach of linkage analysis, followed by positional cloning, is hindered in FA by genetic heterogeneity and the lack of a simple assay for determining complementation groups. In contrast to genetic linkage studies, microcell mediated chromosome transfer utilizes functional complementation to identify the disease bearing chromosome. Here we report the successful use of this technique to map the gene for the rare FA complementation group D (FA(D)).

Further study of genetic interactions: loss of short arm material in patients with ring chromosome 4 changes developmental pattern of del(4)(q33).

Segment 4q33 is not considered a probable location of a gene related with limb deficiency by Roberts and Tabin [Am J Hum Genet 55:1-6, 1994]; however, the occurrence of ectrodactyly or its equivalents in at least 9 published cases of monosomy 4q33 suggests probable location of one of these genes in that region. Ulnar ray defects and/or ectrodactyly were the prevailing forms. An additional loss of the tip of 4p in patients with ring chromosome 4 leads to a change of limb deficiency type: 8 of 9 patients with r(4) and limb deficiency had radial ray defects. Therefore, interactions between a proposed 1/2 dose "ectrodactyly" gene on 4q33 and some 1/2 dosage genes on distal 4p (or disturbed cellular homeostasis due to a ring chromosome 4) can change the developmental pattern of limb deficiency. Possible mechanisms and significance of the phenomenon are discussed.

Radial ray defects, renal ectopia, duodenal atresia and hydroccphalus

We present two families with a striking concordance of multiple anomalies. These include duodenal and other bowel atresia, radial ray defects especially absent or vestigial thumb, renal ectopia and hydrocephalus. The presence of diagnostically raised sensitivity to mitomycin C in the first family has confirmed Fanconi anaemia. This has further increased the spectrum of abnormalities in Fanconi anaemia and highlights the importance of mitomycin C analysis if elements of this spectrum are encountered.

Radial ray defect and Robin sequence

We report an infant with the principal features of bilateral radial defects, club foot deformity, micrognathia and cleft palate. Other dysmorphic manifestations include the presence of bilateral clinodactyly, medial displacement of the thumb, low set ears and an unusually long 2nd toe. This constellation of signs has not been previously reported and may constitute a new syndrome.

Patterns of acrorenal malformation associations.

Limb and urinary tract defects have frequently been reported to occur together as components of a single acrorenal field defect or in many multiple malformation syndromes. However, the concordance of such anomalies has rarely been studied on a population basis or the relationships between specific limb and renal defects defined. This paper documents the patterns of acrorenal associations seen in over 1,500,000 infants born in Hungary in 1975-1984. In all, 1 in 1,800 infants had a limb deficiency and 9% of these (75 cases) had a urinary tract anomaly. Urinary tract anomalies were most commonly seen with radial ray defects, micromelia and amelia. The commonest recognized patterns were VACTERL association and the cloacal exstrophy and caudal regression sequences. Chromosomal and single gene defects also occurred. Numerical taxonomic techniques delineated six main clusters of patients. Important groupings included micromelia with renal agenesis, split hand/foot with hydronephrosis, and radial ray anomalies with VACTERL defects. The radial ray groups differed in the nature of the VACTERL anomalies seen and with respect to laterality, symmetry, and non-VACTERL anomalies. There was a strong association of bilateral limb defects with bilateral renal anomalies and unilateral with unilateral. Ipsilateral defects tended to occur in typical VACTERL cases, while contralateral defects tended to occur with additional non VACTERL midline anomalies. Although renal and limb anomalies are associated, in almost all cases malformations in other systems are also present. The precise nature of the malformation patterns seen appear to reflect differences in the nature and magnitude of the underlying dysmorphogenetic processes as well as the timing of their effects.

Radial ray defects, triangular face, telecanthus, sparse hair, dwarfism, and mental retardation

Radial ray defects, triangular face, telecanthus, sparse hair, dwarfism, and mental retardation

Rare abnormalities of the scaphoid in association with congenital radial ray defects of the hand: A report of two cases

Rare abnormalities of the scaphoid in association with congenital radial ray defects of the hand: A report of two cases

Management of Radial Dysplasia

An appreciation of the clinicopathologic presentation of children with radial dysplasia (radial club hand) is important. Management decisions depend upon the degree of radial ray defect present; in most cases these are surgical. Current surgical options favor centralization without resection of carpal bones, stabilized by tendon transfers. When the thumb ray is deficient, pollicization is a rewarding procedure.

Unknown syndrome: radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst

We present a male infant with a giant omphalocele, diaphragmatic hernia, hepatic cyst, bilateral radioulnar synostosis, absent left thumb, and triphalangeal right thumb.

Radial ray defects and associated anomalies; unique nature of the radial deficiencies and facial dysmorphism in the TAR syndrome

Clinical GeneticsVolume 37, Issue 1 p. 78-79 Radial ray defects and associated anomalies; unique nature of the radial deficiencies and facial dysmorphism in the TAR syndrome Anthony Lipson, Corresponding Author Anthony Lipson1 Genetics and Dysmorphology Unit The Royal Alexandra Hospital for Children Pyrmont Bridge Road Camperdown Sydney 2050 AustraliaSearch for more papers by this author Anthony Lipson, Corresponding Author Anthony Lipson1 Genetics and Dysmorphology Unit The Royal Alexandra Hospital for Children Pyrmont Bridge Road Camperdown Sydney 2050 AustraliaSearch for more papers by this author First published: January 1990 https://doi.org/10.1111/j.1399-0004.1990.tb03395.xCitations: 6AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume37, Issue1January 1990Pages 78-79 RelatedInformation

Radial ray defects and associated anomalies.

In a series of 34 patients with defects of the radial ray, 24 individuals had additional clinical manifestations. A firm syndromic diagnosis could be reached in 17 persons (TAR syndrome 4, Holt-Oram syndrome 8, Fanconi anaemia 2, VATER association 2, Radial ray-choanal atresia 1). In the remainder, no specific diagnosis could be established. The heterogeneity of radial ray syndromes has important implications for prognostication and genetic counselling.

Severe Limb Deficiency in Poland??s Syndrome

Although Poland's syndrome is classically considered to consist of simple syndactyly, limb hypoplasia, and ipsilateral pectoral muscle agenesis, a rate group of patients with pectoral agenesis has more severe limb deficiencies. In ten of these patients and in similar patients reported in the literature, a broad range of limb deformities was observed. The authors classified the patients according to limb anomalies: type 1, five digits present even if hypoplastic; type 2, functional border digits with the absence of central digits; type 3, more severe absence deformities with no functional digits; and type 4, radial ray defects with absent thumb. The understanding that Poland's syndrome includes a spectrum of limb anomalies is important in searching for associated birth defects, in genetic counseling, and, possibly, in elucidating the pathogenesis of the syndrome.