Associated malformations in patients with limb reduction deficiencies.
Summary of "Associated malformations in patients with limb reduction deficiencies."
Infants with limb reduction deficiencies (LRD) often have other associated congenital malformations. The purpose of this investigation was to assess the prevalence and the types of associated malformations in a defined population. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for malformations was continued until 1 year of age. The associated malformations in infants with LRD were collected in all livebirths, stillbirths and terminations of pregnancy during 25 years in 347,810 consecutive births in the area covered by our population based registry of congenital malformations. Of the 271 LRD infants born during this period, representing a prevalence of 7.8 per 10,000, 57.9% had associated malformations. There were 17(6.3%) patients with chromosomal abnormalities including 10 trisomies 18, and 62 (22.9%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognised dysmorphic conditions, but VA(C)TER(L) association. However numerous recognized dysmorphic conditions were registered including Poland, ectrodactyly-ectodermal dysplasia-clefting, oral-facial-digital, Klippel-Trenaunay-Weber, oculo-auriculo-vertebral defect spectrum, CHARGE, Townes Brocks, Moebius, Du Pan, Smith-Lemli-Opitz, hypoglossia-hypodactyly, amniotic band, De Lange, Rubinstein-Taybi, Fanconi, radius aplasia- thrombocytopenia, Roberts, Holt-Oram, and fetal diethylstilbestrol. Seventy eight (28.8 %) of the patients were multiply, non syndromic, non chromosomal malformed infants (MCA). Malformations in the cardiac system, in the genital system, and in the central nervous system were the most common other malformations, 11.4%, 9.4%, and 7.7% of the associated malformations, respectively, followed by malformations in the renal system (4.8%), and in the digestive system (4.6%). Prenatal diagnosis was performed in 48.4 % of dysmorphic syndromes with LRD. The overall prevalence of associated malformations, which was more than one in two infants, emphasizes the need for a thorough investigation of infants with LRD.A routine screening for other malformations especially cardiovascular system, urogenital system, central nervous system, and digestive system may be considered in infants and in fetuses with LRD.
Affiliation
Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France.
Journal Details
This article was published in the following journal.
Name: European journal of medical genetics
ISSN: 1878-0849
Pages:
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/20670696
- DOI: http://dx.doi.org/10.1016/j.ejmg.2010.07.012
Medical and Biotech [MESH] Definitions
Klippel-trenaunay-weber Syndrome
A congenital disorder that is characterized by a triad of capillary malformations (HEMANGIOMA), venous malformations (ARTERIOVENOUS FISTULA), and soft tissue or bony hypertrophy of the limb. This syndrome is caused by mutations in the VG5Q gene which encodes a strong angiogenesis stimulator.
Limb Salvage
An alternative to amputation in patients with neoplasms, ischemia, fractures, and other limb-threatening conditions. Generally, sophisticated surgical procedures such as vascular surgery and reconstruction are used to salvage diseased limbs.
Limb Buds
Distinct regions of mesenchymal outgrowth at both flanks of an embryo during the SOMITE period. Limb buds, covered by ECTODERM, give rise to forelimb, hindlimb, and eventual functional limb structures. Limb bud cultures are used to study CELL DIFFERENTIATION; ORGANOGENESIS; and MORPHOGENESIS.
Sarcoglycanopathies
Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.
Phantom Limb
Perception of painful and nonpainful phantom sensations that occur following the complete or partial loss of a limb. The majority of individuals with an amputated extremity will experience the impression that the limb is still present, and in many cases, painful. (From Neurol Clin 1998 Nov;16(4):919-36; Brain 1998 Sep;121(Pt 9):1603-30)
PubMed Articles
Children and adolescents with congenital limb deficiencies are visibly and physically different from their peers. They present limitations in activities, depending on the severity of deficiency. There...
Vascular lesions are a heterogeneous group of congenital anomalies which can be classified into vascular tumours or vascular malformations. Vascular tumours can be further classified as haemangiomas o...
Presence of Ribeiroia ondatrae in the developing anuran limb disrupts retinoic acid levels.
The widespread reports of malformed frogs have sparked interest worldwide to try and determine the causes of such malformations. Ribeiroia ondatrae is a digenetic trematode, which has been implicated...
IntroductionEllis - van Creveld syndrome is an autosomal recessive disorder manifest by short-limb dwarfism, thoracic dystrophy, postaxial polydactyly, dysplastic nails and teeth, and an approximately...
The thalidomide experience: review of its effects 50 years later.
This year is the 50(th) anniversary of the discovery that the drug thalidomide causes birth defects and should therefore be considered as a teratogen. However, despite the existence of several other d...
Clinical Trials
Study Comparing Onyx and TRUFILL in Brain Arteriovenous Malformations (AVMs)
Test whether AVMs treated with Onyx is equivalent to treatment with n-BCA. Success is defined as an AVM size reduction greater than 50%
Influence of MMP on Brain AVM Hemorrhage
Brain vascular malformations, including arteriovenous malformations (AVM), cavernous malformations (CVM) and aneurysms, are a source of life-threatening risk of intracranial hemorrhage. Th...
Controlled Study of Farabloc for Chronic Phantom Limb Pain Among Veteran Amputees
The primary purpose of this study is to determine if the group using Farabloc shows a greater reduction in pain levels than the group not using Farabloc at 6-week, 12-week and 1-month post...
Nutritional Deficiencies in the Bariatric Patients
Although morbidly obese subjects have larger than regular caloric intake, there is evidence that they suffer from nutritional deficiencies at a higher rate than the general population, pro...
Acupuncture for the Treatment of Phantom Limb and Residual Limb Pain After Amputation
The purpose of this study is to identify the best treatment sequence and combination of acupuncture points for the treatment of phantom limb or residual limb pain in the traumatic/surgical...
