case_images: PMC8660850_01
case_images: Autopsy findings showing craniofacial dysmorphism, limb abnormalities and lung hypoplasia. (A,B) Flat face, low anterior and posterior hairlines, synophrys, hypotelorism, upslanting palpebral fissures, large floppy low-set ears, large midline cleft lip and palate, absent nasal septum, large mouth with down-turned corners and micrognathia; (C) Rocker bottom feet and right talipes equinovalgus; (D) Unilobular right lung; (E) pulmonary hypoplasia and congenital pulmonary airway malformation, type II in the right lung (Hematoxylin and Eosin stain, x40).
case_images: fgene-12-766316-g001.jpg
case_images: PMC8660850_01_fgene-12-766316-g001.jpg
case_images: F1
case_images: On admission, her examination was significant for midline cleft lip and palate, hypotelorism, up-slanting palpebral fissures, absent nasal septum, large, prominent ears, clinodactyly, a single flexion crease of the right fifth digit, a single transverse palmar crease on the left, rocker-bottom feet with talipes equinovalgus, anterior anus, sacral dimple, possible craniosynostosis and a single umbilical artery (Figure 1).
case_images: Brain and vertebral abnormalities. (A,B) Gross specimen of the brain on autopsy showing alobar holoprosencephaly with disordered gyral pattern, a single common ventricle, a large dorsal cyst (contained 85 ml cerebrospinal fluid) and absence of the olfactory tracts and bulbs; (C,D) MRI of the brain showing single ventricle and alobar holoprosencephaly; (E) X-ray of chest and abdomen showing dextroposition of the heart, segmentation abnormalities of multiple thoracic vertebrae and absent left lateral portion of S2 vertebra.
case_images: fgene-12-766316-g002.jpg
case_images: PMC8660850_01_fgene-12-766316-g002.jpg
case_images: F2
case_images: X-ray on admission showed segmentation abnormalities of the thoracic spine with absence of the left lateral portion of S2 (Figure 2). MRI of the brain was consistent with alobar HPE and craniosynostosis (Figure 2).