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. 2005 May-Jun;25(3):219-27.
doi: 10.5144/0256-4947.2005.219.

A morpho-etiological description of congenital limb anomalies

S M Tayel  1 , M M Fawzia, Niran A Al-Naqeeb, Said Gouda, S A Al Awadi, K K Naguib
Affiliations

A morpho-etiological description of congenital limb anomalies

S M Tayel et al. Ann Saudi Med. 2005 May-Jun.

Abstract

Background: Limb anomalies rank behind congenital heart disease as the most common birth defects observed in infants. More than 50 classifications for limb anomalies based on morphology and osseous anatomy have been drafted over the past 150 years. The present work aims to provide a concise summary of the most common congenital limb anomalies on a morpho-etiological basis.

Patients and methods: In a retrospective study, 70 newborns with anomalies of the upper and/or lower limbs were ascertained through clinical examination, chromosomal analysis, skeletal surveys and other relevant investigations.

Results: Fetal causes of limb anomalies represented 55.8% of the cases in the form of 9 cases (12.9%) with chromosomal aberrations (trisomy 13, 18 and 21, duplication 13q and deletion 22q) and 30 cases (42.9%) with single gene disorders. An environmental etiology for limb anomalies was diagnosed in 11 cases (15.7%) as amniotic band disruption, monozygotic twin with abnormal circulation, vascular disruption (Poland sequence, sirenomelia and general vascular disruption) and an infant with a diabetic mother. Twenty cases (28.5%) had limb anomalies as part of sporadic syndromes of unknown etiology.

Conclusions: The morpho-etiological work-up of limb anomalies adopted in the present study is valuable for detecting the cause of the anomaly and is crucial for its prevention. Prevention can be achieved by proper genetic counseling, which includes recurrence risk estimation and prenatal diagnosis.

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Figures

Figure 1
Figure 1
Limb anomalies due to fetal causes (chromosomal aberrations). a) Bilateral cutaneous syndactyly of the little and ring fingers (arrow) and right little finger clinodactyly (arrow) in a short broad hand of a Down syndrome child (trisomy 21). b) Left preaxial polydactyly (arrow) in a newborn male with Edward’s syndrome (trisomy 18). Note the malformed low-set and posteriorly rotated ears, the micrognathia, the clenched hand, and the overlapping fingers. c) Left postaxial polydactyly (arrow) in a newborn male with partial trisomy 13 (13q+). Other dysmorphic features include bulging forehead, blepharophimosis, deep-set eyes, depressed nasal bridge, long philtrum, thin upper lip, and pectus excavatum.
Figure 2
Figure 2
Showing limb anomalies due to fetal causes (single gene disorders). a) Triphalangeal and distally displaced left thumb (short arrow) with thenar muscles hypoplasia, and preaxial polydactyly (long arrow) in an infant with the autosomal dominant triphalangeal thumb polydactyly syndrome. b) Isolated preaxial polydactyly (arrow). c) Bilateral preaxial autosomal dominant synpolydactyly. The second toe is duplicated and fused (arrows).
Figure 3 (a,b)
Figure 3 (a,b)
Limb anomalies due to fetal causes (single gene disorders). A newborn boy with bilateral postaxial synpolydactyly of the ring finger (short arrows) and bilateral preaxial synpolydactyly of the big toe (long arrow).
Figure 4 (a,b)
Figure 4 (a,b)
Limb anomalies due to environmental causes. Limb anomalies due to amniotic band disruption: a) constriction rings (arrow), syndactyly, and ectrodactyly or terminal phalanges amputations; b) Transverse limb defect, i.e. amputation of both feet.
Figure 5
Figure 5
Limb anomalies due to environmental causes. a) A newborn with sirenomelia (due to vascular disruption) where both lower limbs and feet are fused, absent external genitalia and imperforate anus. b) A newborn with general vascular disruption presented with bilateral limb amputation (transverse reduction defect), absent right thumb and index finger, right radial hypoplasia (radial ray defect), absent external genitalia, and blue colored skin. c) Bilateral gangrene of the leg and foot due to abnormal circulation in one of a triplet.
Figure 6
Figure 6
Limb anomalies due to sporadic causes. a) Acheiria (transverse limb defect) in a newborn boy where the left palm is absent and the fingers are rudimentary and presented by digital buds (arrow), b) Tetraperomelia in a newborn boy (amputation in both upper and lower limbs), c) Bifid thumb.
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