Micromelia: Shortening of both proximal and distal segments of limb
Phocomelia: Shortening of limb with hand/foot arising near trunk
Proximal segment often most severely affected
Limb reduction defect: Absence of any portion of skeletal structures or soft tissues of limb
May be transverse, longitudinal, or intercalary deficiency
Hemimelia: Absence of distal limb
IMAGING
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
da Costa Almeida CB et al: Report of the phenotype of a patient with roberts syndrome and a rare ESCO2 variant. J Pediatr Genet. 9(1):58-62, 2020
Schwickert A et al: [Prenatal diagnostics and postnatal complications in a case of extremely rare tetra-amelia.] Z Geburtshilfe Neonatol. ePub, 2020
Sezer A et al: Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility. Eur J Med Genet. 62(12):103608, 2019
Liao YM et al: Routine screening for fetal limb abnormalities in the first trimester. Prenat Diagn. 36(2):117-26, 2016
Pallavee P et al: Foetal fibular hemimelia with focal femoral deficiency following prenatal misoprostol use: a case report. J Obstet Gynaecol. 36(6):760-1, 2016
Haro E et al: Sp6 and Sp8 transcription factors control AER formation and dorsal-ventral patterning in limb development. PLoS Genet. 10(8):e1004468, 2014
Al-Qattan MM: WNT pathways and upper limb anomalies. J Hand Surg Eur Vol. 36(1):9-22, 2011
Eyaid W et al: A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families. Am J Med Genet A. 155A(3):599-604, 2011
Ema M et al: Fetal malformations and early embryonic gene expression response in cynomolgus monkeys maternally exposed to thalidomide. Reprod Toxicol. 29(1):49-56, 2010
Goh ES et al: The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. Am J Med Genet A. 152A(2):472-8, 2010
Gordillo M et al: The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet. 17(14):2172-80, 2008
Niemann S et al: Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. Am J Hum Genet. 74(3):558-63, 2004
Megier P et al: Three-dimensional ultrasound in the diagnosis of left upper limb amelia and right upper limb deficiency at 10 weeks' gestation. Ultrasound Obstet Gynecol. 20(3):303-4, 2002
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
TERMINOLOGY
Definitions
Amelia: Absence of 1 or more limbs
Micromelia: Shortening of both proximal and distal segments of limb
Phocomelia: Shortening of limb with hand/foot arising near trunk
Proximal segment often most severely affected
Limb reduction defect: Absence of any portion of skeletal structures or soft tissues of limb
May be transverse, longitudinal, or intercalary deficiency
Hemimelia: Absence of distal limb
IMAGING
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
da Costa Almeida CB et al: Report of the phenotype of a patient with roberts syndrome and a rare ESCO2 variant. J Pediatr Genet. 9(1):58-62, 2020
Schwickert A et al: [Prenatal diagnostics and postnatal complications in a case of extremely rare tetra-amelia.] Z Geburtshilfe Neonatol. ePub, 2020
Sezer A et al: Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility. Eur J Med Genet. 62(12):103608, 2019
Liao YM et al: Routine screening for fetal limb abnormalities in the first trimester. Prenat Diagn. 36(2):117-26, 2016
Pallavee P et al: Foetal fibular hemimelia with focal femoral deficiency following prenatal misoprostol use: a case report. J Obstet Gynaecol. 36(6):760-1, 2016
Haro E et al: Sp6 and Sp8 transcription factors control AER formation and dorsal-ventral patterning in limb development. PLoS Genet. 10(8):e1004468, 2014
Al-Qattan MM: WNT pathways and upper limb anomalies. J Hand Surg Eur Vol. 36(1):9-22, 2011
Eyaid W et al: A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families. Am J Med Genet A. 155A(3):599-604, 2011
Ema M et al: Fetal malformations and early embryonic gene expression response in cynomolgus monkeys maternally exposed to thalidomide. Reprod Toxicol. 29(1):49-56, 2010
Goh ES et al: The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. Am J Med Genet A. 152A(2):472-8, 2010
Gordillo M et al: The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet. 17(14):2172-80, 2008
Niemann S et al: Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. Am J Hum Genet. 74(3):558-63, 2004
Megier P et al: Three-dimensional ultrasound in the diagnosis of left upper limb amelia and right upper limb deficiency at 10 weeks' gestation. Ultrasound Obstet Gynecol. 20(3):303-4, 2002
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