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The purpose of this article is to analyse all cases of thanatophoric dysplasia and document the associated CNS anomalies. A retrospective study of all cases of thanatophoric dysplasia diagnosed in the department of perinatal pathology from January 2009 to December 2016. The various associated findings with due reference to the CNS manifestations were analyzed. During the study period, 7741 foetal autopsies were done, of which 24 (0.31%) were diagnosed to have thanatophoric dysplasia. The brain of one case was autolysed and hence, this had been excluded from this study. Of the 23 cases, 19 were of type 1 (83%) and 4 were of type 2 (17%). CNS anomalies were present in all. In our series, the characteristic findings seen in TD type 1 were enlarged skull, short neck, narrow thorax, protuberant abdomen, severe rhizoacromelic shortening of all four limbs with bowing of lower limbs. Whereas, type 2 manifested with large clover leaf skull with frontal bossing, short neck, short ribs, protuberant abdomen, severe rhizoacromelic shortening of all four limbs. Both the types had their characteristic fetogram findings. Central nervous system anomalies were seen in all 23 cases; which were multiple bilateral clefts seen in the inferior surface of the temporal lobe and medial surface of the occipital lobe. There were no noticeable differences in CNS abnormalities between TD type I and II. Clefting disorders consistently seen in the present series and in other reports calls for attention to be given to cortical malformations of the temporal lobe. This constellation of brain abnormalities needs recognition in fetal imaging and we propose that this should be included in the guidelines for diagnosis of thanatophoric dysplasia.

Agnathia/Otocephaly is a rare lethal syndrome characterised by mandibular hypoplasia/aplasia, ventromedial malposition or fusion of ears, microstomia and microglossia/aglossia. We present 26 cases of prenatally diagnosed agnathia/otocephaly, the largest published series so far, with a broad review of available literature and updated concepts on the etiopathogenesis. This is a retrospective case series identified between May 2000 and April 2018 in a tertiary fetal medicine centre in South India where we evaluated the ultrasound features of agnathia/ otocephaly and assessed the associated anomalies and syndromes. Out of 26 cases identified, 42% were isolated and 58% were associated with other anomalies. The most common associations were skeletal (7) followed by central nervous system anomalies (4) and genitourinary anomalies (2). Syndromes identified were Nager acrofacial dysostoses, Treacher Collins, Al Awadi Raas Rothschild and Femoral Facies syndrome. A simple method of observing the mandibular dot in-line with the maxilla in the sagittal view and the absence of the same would help to raise the suspicion of agnathia/severe micrognathia. The difference between these two and syndromic associations may not be brought out in ultrasound. Postnatal clinical assessment or pathologic diagnosis is mandatory as it helps in the counselling process and in the guidance of subsequent pregnancies.

Congenital spinal canal stenosis is a very rare vertebral disorder. The etiology is not clearly defined. Genetic, nutritional, and environmental factors have all been presumed to play a role in the evolution of this defect. The incidence of congenital spinal canal stenosis is also unknown. To our knowledge, there are no prenatally described cases in literature. We report two unusual cases of congenital spinal canal stenosis associated with rib and vertebral anomalies. Both presented with vertebral anomalies at the thoracic level, congenital talipes equinovarus (CTEV) and rib anomalies. In view of multiple anomalies, both the pregnancies were terminated and the diagnosis was confirmed by postnatal pathological examination.