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Associated malformations in patients with limb reduction deficiencies
Claude Stoll1, Yves Alembik, Beatrice Dott
1Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France. claude.stoll@medecine.u-strasbg.fr
Insights
Over half of infants with limb reduction deficiencies (LRD) have associated malformations, including chromosomal abnormalities and dysmorphic conditions. Thorough investigation and screening for conditions like heart and central nervous system defects are crucial for affected infants.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Medicine
Background:
- Limb reduction deficiencies (LRD) are congenital conditions often accompanied by other malformations.
- Understanding the prevalence and types of these associated malformations is critical for comprehensive patient care.
Purpose of the Study:
- To assess the prevalence and types of congenital malformations associated with limb reduction deficiencies (LRD) in a defined population.
- To highlight the need for thorough investigation in infants diagnosed with LRD.
Main Methods:
- A 25-year population-based study of 347,810 births, identifying 271 infants with LRD.
- Inclusion of livebirths, stillbirths, and elective terminations, with geneticist examination and follow-up until 1 year of age.
Main Results:
- The prevalence of LRD was 7.8 per 10,000 births, with 57.9% of affected infants having associated malformations.
- Associated conditions included chromosomal abnormalities (6.3%), recognized dysmorphic syndromes (22.9%), and multiple non-syndromic malformations (28.8%).
- Most common system malformations were cardiac (11.4%), genital (9.4%), and central nervous system (7.7%).
Conclusions:
- More than half of infants with LRD present with associated malformations, underscoring the need for comprehensive evaluation.
- Routine screening for cardiac, urogenital, central nervous system, and digestive system malformations is recommended for infants and fetuses with LRD.
Abstract:
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 recognized 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.
