prof. mamoun kremli dr: gehan mohamed. recognize some limb anomalies amelia, meromelia, hemimelia ...
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Prof. mamoun KremliDR: Gehan Mohamed
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Recognize some Limb Anomalies Amelia, Meromelia, Hemimelia Polydactyly Syndactyly Amniotic band syndrome
Discuss Etiology
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Melia: from Greek: ”Limb”
Amelia: GK, A: Lack of..Meromelia: Gk, meros: “part”: lack of
part Phocomelia:Gk, Phoco: “Seal”: like limb
of Seal Hemimelia: GK, Hemi: “Half”: lack of half
of limb
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Limbs arise from small limb buds Upper limb bud appear after 26 days Lower limb bud appear after 28 days.
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Somatic lateral mesoderm →limb buds (mesodermal core + ectodermal cap) → elongated & fragmented → 3 portions
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Wk 6
Terminal portions of limb buds form hand & foot plates
Digital rays in distal ends form fingers & toes (wk 8) (apoptosis of tissues in between)
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Limb anomalies Are-prevented: Amelia-Interrupted: Meromelia. Phocomelia,
Hemimelia
Very early in the developing embryo: Between 24-36 days following fertilization
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Absence of one or more limbs
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Absence of one or more limbs
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A. Environmental Factors1. Teratogenic drugs
▪ e.g. Thalidiomide (was introduced as analgesic drug )
2. Maternal Factors - Diabetes mellitus3. Vascular accidents in uterus
B. Genetics – 20%1. Mutations in genes
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Partial absence of a limb or limbs
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Extremities resemble those of a seal.Typically, hands and feet are present
(may be normal or abnormal), but the intervening arms and legs are absent
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Poly: many, dactyl: digit (finger/toe)Presence of more than normal number
of fingers or toes Rudimentary finger or toe, or Fully developed extra digit(s)
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18www.similima.com
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Most common congenital malformation of limbs
Incidence: 1 in 2000-3000
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10-40 % are familial
Non hereditary non syndromic
Few reports association with maternal smoking
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This type of mild syndactyly is found occasionally on the physical examination.
This is usually an isolated finding, and in this location, has no impact on function.
23www.similima.com
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Watson S Arch Dis Child 2000;83:10-17Copyright © BMJ Publishing Group Ltd & Royal College of Paediatrics and Child Health. All rights reserved.
Hand with transverse deficiency at the metacarpal level.
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At a different planeAt 90o to other fingersOpposition motion
50% of hand function
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Watson S Arch Dis Child 2000;83:10-17Copyright © BMJ Publishing Group Ltd & Royal College of Paediatrics and Child Health. All rights reserved.
Pollicization of the index finger to make a thumb
Father Child after surgery
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Watson S Arch Dis Child 2000;83:10-17
Copyright © BMJ Publishing Group Ltd & Royal College of Paediatrics and Child Health. All rights reserved.
Hand with thumb and aplastic fingers.
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The constriction of appendages by amniotic bands may result in: Restrictions of the growth around the digits, arms
and legs Constriction rings around the digits, arms and legs
the bands will partially constrict the blood flow in the affected appendage causing a deep groove in the baby's skin
Swelling of the extremities distal to the point of constriction (congenital lymphedema)
Amputation of digits, arms and legs (congenital amputation)
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After surgery
Before surgery
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Partial fibular hemimelia
Short leg
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Which is worse?Why?
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Which is worse?Why?
Which bone is more important for knee and ankle joint surfaces?
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Many congenital anomaliesNomenclature:
Amelia Phocomelia, meromelia Hemimelia Polydatyly, Syndactyly Amniotic band syndrome
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Importance of thumb 50% of hand function
Tibial hemimelia Vs. Fibular hemimelia
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Causes od anomalies: Teratogenic Drugs Uterine problems
▪ Blood supply (vascular accidents) Maternal factors
▪ Disease: Diabetes▪ Smoking, Alcohol
Hereditary