Isolated limb deficiencies are usually sporadic occurrences. However, if they are associated with other abnormalities or a family history, the risk to future pregnancies may be as high as 50%. A thorough history, examination and investigation of the baby as well as the parents is essential before assessing this recurrence risk. The syndromes associated with limb deficiencies are presented.
References
1.
AhmedM.AbbasM.HaqueS.FlatzG. Chroraosally inherited split hand/split foot anomaly in a Pakistani kindred. Hum. Genet.1987; 75: 169–173
2.
AlterB. P. Thumbs and anaemia. Pediatrics1978; 62: 613–614
3.
AuerbachA. D.SaoiM.AlderB. Fanconi anemia: prenatal diagnosis in 30 fetuses at risk. Pediatrics1985; 76: 794–800
4.
Bouwes BavinckJ. N.WeaverD. D. Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Kuppel-Feil, and Moebius anomalies. Am. J. Med. Genet.1986; 23: 903–918
5.
CalzoraliE.ManservioiD.GaraniG. P.Cocchi MagagniG.CMilanM. Limb reduction defects in Emilia Romagna, Italy: epidemiological and genetic study in 173,109 consecutive births. J. Med. Genet.1990; 27: 353–357
ElejaldeB. R.de ElejaldeM. M.Booth KayeC. C.HolusonL. Prenatal diagnosis of Weyer's syndrome (deficient ulnar and fibular rays with bilateral hydronephrosis). Am. J. Med. Genet.1985; 21: 439–444
8.
FernbachS. K.GlassR. B. J. The expanded spectrum of limb anomalies in VATER association. Pediatr. Radiol.1988; 18: 214–220
9.
Freire MaiaN. Congenital skeletal limb deficiencies: a general view. Birth Defects OAS1969; 5(3)7–13
10.
Freire MaiaA. A recessive form of ecterodactyly and its implications in genetic counselling. J. Hered.1971; 62: 53
11.
FrynsJ. P. Congenital scalp defects with distal limb anomalies. J. Med. Genet.1987; 24: 493–496
12.
GlanzA.FraserF. C. Spectrum of anomalies in Fanconi anaemia. J. Med. Genet.1982; 19: 412–416
13.
HallJ. Genomic imprinting: review and relevance to human diseases. Am. J. Hum. Genet.1990; 46: 857–873
14.
HechtJ. T.ScottC. I. Recurrent unilateral hand malformations in siblings. Clin. Genet.1981; 20: 225–228
15.
MacDermotK. D.WinterR. M. Radial ray defect and Duane anomaly: report of a family with autosomal dominant transmission. Am. J. Med. Genet.1987; 27: 313–319
16.
MillenJ. W. Thalidomide and limb deformities. Lancet1962; II: 599–600
17.
MilunskyA.GrafJ. W.GaynorM. F. Methotrexate induced congenital malformations with a review of the literature. J. Pediatr.1968; 72: 790–795
18.
O'RahillyR. Nomenclature and classification of limb anomalies. Birth Defects OAS1969; 5(3)14–16
19.
ParyaniS. G.ArvinA. M. Intrauterine infection with varicella zoster virus after maternal varicella. N. Engl. J. Med.1986; 314: 1542–1546
20.
PauliR. M.FeldmanP. F. Major limb malformations following intrauterine exposure to ethanol; two additional cases and literature review. Teratology1986; 33: 273–280
21.
RomkeCFroster-IskeniusU.HeyneK.HohnW.HofM.GrzejszcykG.RouskolbR.RehderH.SchwingerE. Roberts syndrome and SC phocomelia. A single gene entity. Clin. Genet.1987; 31: 170–177
22.
SchinzelA. A. G.SmithL.MillerD.W. J. R. Monozygotic twinning and structural defects. J. Pediatr.1979; 95: 921–930
23.
StevensonR. E.JonesK. L.PhelanM. C.JonesM. C.BarrM.ClericuzioC.HerleyR. A.BenirschkeK. Vascular steal: the pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues. Pediatrics1986; 78: 451–457
24.
StreeterG. L. Focal deficiencies in fetal tissue and their relation to intrauterine amputation. Contra. Embryol. Carneg. Inst.1930; 22: 1–44
25.
TemtamyS. A.MillerD. J. Extending the scope of the VATER association: definition of the VATER syndrome. Pediatr.1974; 85: 345–349
26.
ThierschJ. B. Therapeutic abortions with a folic acid antagonist, 4 aminopteroyl glutamic acid (4 amino PGA) administered by the oral route. Am. J. Obstet. Gynecol1952; 63: 1298
27.
ThompsonE.PembreyM.GrahamJ. M. Phenotypic variation in LADD syndrome. Med. Genet.1985; 22: 382–385
28.
WilsonG. N.HieberV.CSchmickelR. D. The association of chromosome 3 duplication with Cornelia de Lange syndrome. J. Pediatr.1978; 93: 783–788
