A full-term infant with type II thanatophoric dysplasia

Abstract

Objectives To report a neonate with clinical findings consistent with thanatophoric dysplasia (TD). Only a few cases of this rare and lethal skeletal disorder have been reported in South-East Asia. Case presentation A 37-year-old Asian female, fourth gravida at 39 weeks, presented to our hospital for an elective cesarean section due to polyhydramnios, frank breech and gestational hypertension. The father was a 42-year-old Asian male. There was no history of rashes, fever, alcohol intake, substance drug abuse, smoking habit or radiation exposure. Ultrasound (US) of 34-weeks’ gestation found a baby with frontal bossing, prominent temporal lobe, clover-skull and low nasal bridge. The thoracic diameter was smaller than the abdominal diameter. Short limbs without bowing were noted in femur and humeral bones. The patient delivered a baby boy, 4115 g, APGAR scores were 5 and 7 at 1 and 5 min. The baby had a dysmorphic face, frontal bossing, low nasal bridge, low-set ears and short neck. The thorax was narrow and abdomen was protuberant. The upper and lower proximal limbs appeared short. A chest X-ray revealed short, curved ribs and opacification of both lungs. He had respiratory distress shortly after birth and had persistent severe respiratory distress despite adequate mechanical ventilation. On the third day, he had cardiac arrest; resuscitation was not done due to family request. The baby was declared deceased due to cardiopulmonary failure related to his congenital anomaly. Conclusions Ultrasonography could readily indicate TD prenatally. The pregnancy can continue up to late third trimester without miscarriage. Most of the neonates die in utero; those who survive are dependent on ventilator.

Thanatophoric dysplasia in nonadherent to antenatal care in low middle income country: a rare case reports

“…Prenatal diagnosis requires an accurate estimation of the fetal prognosis since patients may choose. A thorough examination performed as part of prenatal care (ANC) is crucial to terminate the pregnancy or forgo surgical delivery of an unviable fetus 16 , 20 . The results of an USG examination can reveal lethality parameters, such as a chest-to-abdominal circumference ratio of less than 0.618, a chest circumference of fewer than 5% at the height of the four-chamber section of the heart (hypoplastic thorax), a femur length-to-abdominal circumference ratio of less than 0.16, or specific distinguishing features that were indicative of an established lethal condition 13 , 16 , 21 , 22 .…”

Thanatophoric Skeletal Dysplasia Type 2: Diagnostic and Management Dilemmas

“…Thanatophoric skeletal dysplasia (TD) is a part of lethal skeletal dysplasia cluster of conditions typically involving abnormal bone formation and growth in long bones of the extremities and the ribs, which consequently lead to limitation in lung growth contributing to its lethality.1 The term fi rst described by Maroteaux et al 1967, based on the Greek term 'thanatophoric' or 'deathbringing', which emphasizes the high mortality of such affected infants within the fi rst few hours after birth. 2 The most recent nosology and classifi cation of genetic skeletal disorders Thanatophoric Skeletal Dysplasia 49 9 th ed. 2015 classifi ed skeletal dysplasia into 436 disorders divided into 42 distinct groups with a total number of 364 genes involved.…”

“…TD is considered as the most common lethal skeletal dysplasia, contributing to approximately 29% of all lethal cases (1 in 20,000 to 1 in 60,000 births). [1][2][3] There has been three cases reported in Indonesia. 2,7,8 The etiopathology of TD varies between congenital autosomal dominant inheritance in minority of cases and sporadically 'de novo' new mutations in majority of cases; both involve mutations in fi broblast growth factor receptor gene 3 (FGFR3).…”

“…1 The term fi rst described by Maroteaux et al 1967, based on the Greek term 'thanatophoric' or 'deathbringing'. 2 TD is considered as a rare disorder with an overall incidence of 1 in 20,000 to 1 in 60,000 births; however, it is also considered as the most common lethal skeletal dysplasia, contributing to approximately 29% of all lethal skeletal dysplasia cases. 3 The incidence of TD varies between congenital autosomal dominant inheritance (20% cases) and sporadic incidence (80% cases); both involve mutations in fi broblast growth factor receptor gene 3 (FGFR3).…”

Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management

“…Type I thanatophoric dysplasia is characterized by presence of flattened spines and curved femurs. Type II thanatophoric dysplasia is distinguished by straight femur and presence of characteristic skull abnormality named a cloverleaf skull [ 150 , 151 , 152 ].…”