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Thanaporic Dysplasia

With Polyhydramnios : A Case Report

Made Yudha Ganesa Wikantyas I Putu Gde 1
Widia , 2
Supriatmaja ,
I Wayan Artana Putra3

Department of Obstetrics and Gynecology, Surya Husadha Hospital, Bali

Maternal-Fetal Division, Department of Obstetrics and Gynecology, Sanglah Hospital, Bali

Thanatophoric Dysplasia is a congenital syndrome, rare and
potentially lethal with an estimated incidence 0.2-0.5 per 10.000
births. Autosomal dominant mutations of the FGR3 at the short arm
of chromosome4, have been described as the cause of 1,2,3
TD. TD has
two subtypes, type I and type II. Type I is characterized by short
1 2
curved femurs and wider bones and is rarely combined with
cloverleaf skull. Type II has straight femurs, wider bones and is
nearly always associated with cloverleaf skull deformity.3,4

To show and study sonographic features about congenital anomaly
from thanatoporic dysplasia as prenatal diagnostic. 3 4

A 31-years-old female patient, (G5P2A2) at 29 weeks of gestation
was referred to Fetal and Maternal Center of Sanglah Hospital with
polyhydramnios and suspect abnormal fetus development. At April
21st, 2017, patient came to Surya Husadha hospital with imminent 5 6
premature of labourPer abdomen examination - fundal height was 30-
31 weeks with fetus in longitudinal lie, breech presentation. Fetal DISCUSSION
Dysmorphic facial features and skeletal abnormalities like
heart rate was 100 bpm and uterus was relaxed.
macrocephaly, wide open anterior and posterior fontanels with
The patient gave birth to a female baby with 2030 grams, 26 cm
suture separation, short upper and lower limbs, short stubby
of body length, head circumference 30 cm, hypoactive, non-reactive
fingers, deep skin creases, narrow thorax and protuberant
and bradycardiac newborn. The apgar score was 1-2, and needed to
abdomen suggested a diagnosis of TD in the baby that
receive rescucitation after birth. The newborn baby was died after 30
delivered in our hospital. To determine TD type I or Type II
minutes of treatment due to respiratory distress. The baby had
usually confirm with skeletal radiograph and molecular
macrocephaly, face was coarse and oedematous with frontal bossing,
testing.5,6 Since our patient did not have antenatal check up in
mid facial hypoplasia, depressed nasal, and short neck. Upper and
second trimester, early diagnosis of TD could not be made.
lower limbs were shortened with short stubby fingers and deep skin
Diagnosis was made by ultrasonography when she reported to
creases. Based on facial features and skeletal abnormalities the
the hospital in early third trimester. Cause of death is
diagnosis of thanatophoric dysplasia was made. Procedures for x-ray
respiratory insufficiency that occurs shortly after birth.
and autopsy was not performed due to family’s disagreement.
Respiratory insufficiency may be secondary to a small chest
cavity and lung hypoplasia, In this case, the newborn baby was
died 30 minutes after birth. Autopsy to confirm the diagnosis
1. Superti-Furga A, Unger S. Nosology and classification of genetic skeletal
disorders: 2006 revision. Am J Med Genet A 2007; 143:1–18. by histopathology and radiological examination could not be
2. Maroteaux P, Lamy M, Robert JM. Thanatophoric dwarfism. Presse Med 1967;
75:2519-24. performed in our case as consent was not given by the parents.
3. Lingappa HA, karra S, Aditya A, Batra N, Chamarthy NP, Ravi C hander
KWD.Autopsy Diagnosis of Thanatophoric Dysplasia. J Indian Acad Forensic CONCLUSION
Med 2013; 35(3):296-98.
4. Khalil A, Pajkrt E, Chitty LS. Early prenatal diagnosis of skeletal anomalies.
The primary method of screening and study is the ultrasound
Prenat al Diagnosis 2011;31:115–24 on early second trimester of gestation. Proper genetic
5. Brodie SG, Kitoh H, Lipson M, et al. Thanatophoric dysplasia type I with
syndactyly. Am J Med Genet. 1998;80:260-62. counseling is important for families having fetus or babies
6. Naveen NS, Murlimanju BV, Kumar V, Pulakunta T, Jeeyar H. Thanatophoric
Dysplasia: A Rare Entity. Oman Medical Journal. 2011;26(3):196-97. with TD regarding upcoming pregnancy.