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Phocomelia: A Case Study

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 Parchake SB, Tumram NK, Kasote AP et al Phocomelia – A case study

Open Access Case Report

Phocomelia – A case study
Soniya B Parchake1, Nilesh Keshav Tumram2, A P Kasote3, M M Meshram3, Pradeep G Dixit2

Abstract
Background: Phocomelia syndrome is a rare birth defect especially of the upper limbs. The bones of the upper arm and in some cases
other appendages may be extremely shortened and even absent. In rare cases, there is absence of the upper bones of both the arms and
legs so that the hands and feet appear attached directly to the body. Here we present a rare case of phocomelia.
Case Presentation: A newly born female infant was brought to the orphanage in our city in very weak condition. She had pansystolic
murmur in parasternal region and was diagnosed with ventricular septal defect. Both upper limbs showed single forearm with rudimentary
phalyngeal bones. Lower limbs shows rudimentary phalyngeal bones with long femur, spine normal. The child did not survive and died
shortly after presentation. Autopsy was done within 24 hours of the death of the female infant, and no significant abnormality other than
rudimentary upper and lower limbs was noted. Evidence of bronchopneumonia was observed in both lungs. Cause of death was attributed
to bronchopneumonia.
Conclusion: The present case had only deformity of the upper and lower limbs with acyanotic heart disease with small muscular ventricular
septal defect. The case highlights the morphological defect in such individuals and challenges that may exist due to the neglect of such a
child by their parents and the need for special care for such individuals having congenital defects if they survives. (El Med J 2:2; 2014)
Keywords: Phocomelia, Rudimentary Limbs, Developmental Disorder

Introduction was found as the child was deserted by their parents.

Phocomelia is an extremely rare congenital disorder involving the
limbs (dysmelia). Étienne Geoffroy Saint-Hilaire coined the term in
1836 [1]. Although various numbers of factors can cause phocomelia,
the prominent roots come from the use of the drug thalidomide and
from genetic inheritance. The occurrence of this malformation in an
individual results in various abnormalities to the face, limbs, ears,
nose, vessels and many other underdevelopments.
According to National Organization for Rare Disorders (NORD): when
phocomelia is transmitted [in its familial genetic form] it is seen as
an autosomal recessive trait and the mutation is linked to chromo-
some 8 [2]. If a person inherits one normal gene and one gene for
the disease, the individual will become a carrier for the disease; how-
ever, they normally do not show symptoms. The chance for two car-
rier parents to both supply the defective gene and produce a child
with symptoms is 25 percent with each pregnancy [2].
Case Presentation
History
A newly born female infant was brought to the ananthashram (or-
phanage) in our city. The parents were unknown and had aban-
doned the female infant on the stairs of the ananthashram.
Clinical Details
The female infant was about one day old and was brought to the
ananthashram in very weak condition. She was having rudimentary
upper limbs and lower limbs. She had pansystolic murmur in paras-
ternal region and was diagnosed with ventricular septal defect. His-
tory of phocomelia with acyanotic heart disease with small muscular
ventricular septal defect was noted. No past history of intake of any
drug or any congenital anomalies in parents of the deceased child
Investigations
Hematological: Peripheral smear - normocytic normochromic with
no parasite seen. Total leucocyte count 10000/cubic mm, poly-
morphs 68%, lymphocytes 26%, eosinophils 2%, monocytes 1%. RBC
4.14 x 106/µl, Hb 13.0 g/dl, mean corpuscular volume 94.9 fl, mean
corpuscular hemoglobin 31.4 pg, mean corpuscular hemoglobin
concentration 33.0 g/dl, platelet count 144 x 103/µl, MPV 7.4 fl, PDW
12.5 fl.
Infantogram: Both upper limbs showed single forearm with rudi-
mentary phalyngeal bones. Lower limbs showed rudimentary
phalyngeal bones with long femur, spine normal. 2D echo showed
small midmuscular ventricular septal defect of 2 mm size. PSG was
30 mm Hg with evidence of pulmonary hypertension. Ultrasonogra-
phy of abdomen did not show any congenital anomalies. NSG was
within normal limit.
Autopsy findings: Autopsy was done within 24 hours of the death of
the female infant. She was 9 days old female infant having rudimen-
tary upper limb and lower limb [Figures 1, 2 and 3]. Weight was 1.5
kg, head circumference was 33 cm, and chest circumference was 31
cm. During postmortem, external examination showed rudimentary
upper and lower limbs. No other significant abnormality was noted.
On internal examination no major organ defect were observed. Evi-
dence of bronchopneumonia was observed in both lungs. Cause of
death was attributed to bronchopneumonia.
Discussion
Typically the symptoms of phocomelia syndrome are undeveloped
limbs and absent pelvic bones; however, various abnormalities can
occur to the limbs and bones [3]. Usually the upper limbs are not
fully formed and sections of the “hands and arms may be missing.”

1Department of Anatomy, Government Medical College, Solapur, Maharashtra, 3Department of Anatomy, Government Medical College, Nagpur, Maharashtra,
India India
2Department of Forensic Medicine and Toxicology Government Medical College,
Correspondence: Nilesh Keshav Tumram
Nagpur, Maharashtra, India Email: ntumram@rediffmail.com

http://www.mednifico.com/index.php/elmedj/article/view/150 Vol 2, No 2
 Parchake SB, Tumram NK, Kasote AP et al
Short arm bones, fused fingers, and missing thumbs will often occur.
Legs and feet are also affected similar to the arms and hands. Indi-
viduals with phocomelia will often lack thigh bones, and the hands
or feet may be abnormally small or appear as stumps due to their
close “attachment to the body” [2].
Figure 1: Female infant with rudimentary upper limbs and
lower limbs in phocomelia
Figure 2: Female infant with a rudimentary lower limb in
phocomelia
Figure 3: Female infant with a rudimentary upper limb in
phocomelia
http://www.mednifico.com/index.php/elmedj/article/view/150
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Phocomelia – A case study
According to NORD, individuals carrying phocomelia syndrome will
generally show symptoms of growth retardation previous to and af-
ter birth. The syndrome can also cause mental deficiencies in infants.
Infants born with phocomelia will normally have a petite head with
“sparse hair” that may appear “silvery-blonde”. Hemangiomas, the
abnormal buildup of blood vessels, will possibly develop around the
facial area at birth and the eyes may be set widely apart, a condition
known as orbital hypertelorism. The pigment of the eyes will be a
bluish white [2]. Phocomelia can also cause an undeveloped nose
with slender nostrils, disfigured ears, irregularly petite jaws (also
known as micrognathia), and a cleft lip with cleft palate [4].
According to NORD, severe symptoms of phocomelia include: a fis-
sure of the skull and a projecting brain known as (encephalocele), an
accumulation of spinal fluid under the skull also known as hydro-
cephalus causing vomiting and migraines, an abnormally shaped
uterus (bicornuate), Inability to clot blood efficiently due to a low
amount of platelets running through the blood, Malformations in the
kidney and heart, shortened neck and abnormalities in the urethra.
Conclusion
The present case had only deformity of the upper and lower limbs
with acyanotic heart disease with small muscular ventricular septal
defect. The case highlights the morphological defect in such individ-
uals, the challenges that may exist due to the neglect of such a child
by their parents and the need for special care for such individuals
having congenital defects if they survive.
Competing interests: The authors declare that no competing interests exist.
Received: 27 January 2014 Accepted: 26 March 2014
Published Online: 26 March 2014
References
1. Zimmer, Carl (15 March 2010). "Answers Begin to Emerge on How Thalidomide
Caused Defects". New York Times. Retrieved 12 November 2012. "The word
“phocomelia” means seal limb. It describes an extremely rare condition in
which babies are born with limbs that look like flippers."
2. "Phocomelia Syndrome". National Organization for Rare Disorders. 11 October
2007.
3. Olney RS, Joyme HE, Roche F, Ferguson K, Hintz S, Madan A: Limb/Pelvis
Hypoplasia. Aplasia With Skill Defect (Schinzel Phocomelia): Distinctive
Features And Prenatal Detection. American Journal of Medicine 103 (4): 205–
301.
4. Hunt, Katherine Susan (2002). "Roberts SC phocomelia". Gale Encyclopedia of
Genetic Disorders, Part I. Detroit: The Gale Group Inc.
Vol 2, No 2