S*, Parulekar SV**
Second Year Resident, ** Professor and Head, Department of Obstetrics and
Gynecology, Seth G.S
and KEM Hospital
is an uncommon congenital malformation of the fetus, after the ban on the use
of thalidomide during pregnancy.
word phocomelia is derived from the Greek words ‘phoco’ meaning seal and ‘melia’
meaning limb. Phocomelia is a very rare congenital disorder involving the
upper, lower or all limbs. It is characterized by extremely shortened or even
absent proximal and mid portions of the limbs. The fingers may be fused
together. In extreme cases the hands and feet may be directly attached to the
trunk (tetraphocomelia). Its causes include intrauterine exposure to
thalidomide, autosomal recessive inherited condition or sporadic change in the
gene, Roberts syndrome, Grebe syndrome, von Voss-Cherstvoy syndrome, and
Schinzel-phocomelia syndrome. We present a case of second trimester abortion in
which the fetus had phocomelia.
year old woman, married for 10 years (non consanguineous), gravida 5, para 2, living
2, spontaneous abortion 3 with 5 months of amenorrhea, was referred from a
private maternity home in view of ultrasonography suggestive of intrauterine
fetal demise of 18 weeks and with a cystic hygroma at the neck. She was treated
with tablet misoprostol 800 μg per vaginally for termination of pregnancy at
the private nursing home, but was later on referred to our hospital in view of
platelet count of 95000/cubic mm. Her obstetric history was as follows.
female child of 8 years,full term normal delivery at home.
child of 6 years,full term normal delivery at home.
abortion at 2 months amenorrhea, check curettage done.
abortion at 2 and 1/2 months amenorrhea, check curettage done.
abortion at 3 months amenorrhea,check curettage done
hemoglobin was 14 g/dl, white cell count 16,000/cmm, platelet count 136000/cmm,
blood urea nitrogen 8.7 mg%, serum creatinine 0.7 mg%, fasting blood sugar 97 mg%,
post lunch blood sugar 105 mg%, VDRL negative, aPTT-31.5 sec(T), 30 sec(C), lupus
Anticoagulant/anti cardiolipin antibodies absent, T3-101, T4-10.2, and TSH 4.4
μIU/ml. Endocrinological reference was done. No intervention was advised for
elevation of TSH. Abdominopelvic ultrasonography showed intrauterine fetal
death at 18 weeks and a cystic hygroma. The process of termination continued
and patient aborted with three more doses of tablet misoprostol 400 μg every 4
hours. The abortus was found to have short limbs, protuberant abdomen, and neck
swelling (figure 1). Its sex could not be determined. It weighed 145 g. The placenta
weighed 185 g. Fetal biopsy and karyotyping could not be done as relatives were
not willing for the same. A clinical diagnosis of phocomelia was made.
Placental histopathology showed chorioamnionitis.
1. Fetus with phocomelia.
2. Babygram, anteroposterior view.
3. Babygram, lateral view.
can be caused by intrauterine exposure to thalidomide. In addition, there might
be club feet, polydactyly, facial abnormalities, microphthalmia, congenital
cardiac anomalies, and intrauterine fetal growth restriction. It
was seen mainly from 1957 to 1961, when thalidomide was used to treat nausea
and vomiting in pregnancy. The risk of embryopathy due to
exposure to thalidomide in the first trimester is 10-50%. However the use of
this drug in pregnancy is contraindicated now, and cases of phocomelia due to
thalidomide are not seen in modern times. The drug is used for erythema nodosum
leprosum, and accidental ingestion of the drug during pregnancy is a
possibility. Our patient did not have any history of ingestion of this drug,
neither intentionally nor accidentally.
Syndrome is inherited as an autosomal recessive condition.[3,4] It
has intrauterine growth restriction, asymmetrical limb reduction, silvery
blonde and sparse scalp hair, microcephaly, hypertelorism, exophthalmos,
congenital cataracts, coloboma, hypoplastic nasal alae, midfacial cleft, facial
haemangioma, bilateral cleft lip or palate, dysplastic ears, brain
malformations, renal malformations, renal dysplasia, cardiac anomalies, genital
malformations, and hypogonadism. Our patient had no family history of
phocomelia, and the fetus did not have any of the malformations visible
externally. A necropsy was not permitted by the parents, so that internal organ
anomalies could not be checked.
syndrome is inherited recessively, caused by a mutation in the gene encoding
cartilage-derived morphogenetic protein-1. The axial skeleton is
normal, the limbs are severely shortened and deformed (humeri and femora
relatively normal, the radii/ulnae and tibiae/fibulae were short and deformed),
fused carpal and tarsal bones, many metacarpal and metatarsal bones absent. Our
case did not have this syndrome, as the femora and humeri were not normal.
Voss-Cherstvoy syndrome is an early lethal multiple congenital anomaly syndrome
characterized by phocomelia of upper limbs, variable brain anomalies,
encephalocele, vertebral and ribs anomalies, urogenital abnormalities, and
thrombocytopenia. Our case had affected lower limbs and did not
show any other features of the syndrome.
syndrome (limb/pelvis-hypoplasia/aplasia syndrome) shows limb defects due to
hypo- or aplasia of long bones unusual facies, pelvic defects, dislocation of
hip, hypoplasia of iliac bone, aplasia of pubic bones, thoracic deformity, and
genitourinary anomalies. Our case did not show these features.
may be seen in families, the inheritance being autosomal recessive. There was
no family history of this disorder in the case presented. It can occur
sporadically due to gene mutation. This appears to be the case in our patient.
- Lee A, Kratochwil A, Deutinger J et-al. Three-dimensional ultrasound in diagnosing phocomelia. Ultrasound Obstet Gynecol. 1995;5 (4): 238-40.
- Strömland K, Miller MT. Thalidomide embryopathy: revisited 27 years later. Acta Ophthalmol (Copenh). 1993;71 (2): 238-45.
- Ahmed AA, Imrie S, Duncan R, Tolmie J. Roberts syndrome: facial dysmorphology in a mildly affected case. Clinical dysmorphology 2009;18:236-7.
- Goh ES, Li C, Horsburgh S et-al. The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. Am. J. Med. Genet. A. 2010;152A (2): 472-8.
- Costa T, Ramsby G, Cassia F, Peters K, Soares J, Correa J, et al. Grebe syndrome: Clinical and radiographic findings in affected individuals and heterozygous carriers. American Journal of Medical Genetics 1998;75:523–529.
- Lubinsky MS, Kahler SG, Speer IE, Hoyme HE, Kirillova IA, Lurie IW. von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies. Am J Med Genet 1994;52(3):272-8.
- Chitayat D1, Stalker HJ, Vekemans M, Delneste D, Azouz EM. Phocomelia, oligodactyly, and acrania: the Schinzel-Phocomelia syndrome. Am J Med Genet 1993;45(3):297-9.
Agrawal S, Parulekar SV. Phocomelia. JPGO 2015. Volume 2 No.
3. Available from: http://www.jpgo.org/2015/04/phocomelia.html