Joubert syndrome causing mutation in C2 domain of CC2D2A affects structural integrity of cilia and cellular signaling molecules

Jayarajan, Roopasree O.; Chakraborty, Soura; Raghu, Kozhiparambil Gopalan; Purushothaman, Jayamurthy; Veleri, Shobi

doi:10.1007/s00221-023-06762-y

Cited by 1 publication

(1 citation statement)

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“…It was important to find out which conditions and syndromes may have the same or similar presentation as found in our case. The presence of genitalia ambiguity and atrioventricular septal defect may be found in SLOS, CHARGE syndrome, Kabuki syndrome, Meckel syndrome, Pallister Hall syndrome, pseudo-trisomy 13 syndrome, squalene synthase deficiency, which is important for differentiation [5][6][7][8][9][10][11][12]. The spectrum of abnormalities observed in the fetus was wide, but the first abnormality that prompted us to perform further genetic diagnosis was fetal ambiguous genitalia due to extreme under-virilisation of the external genitalia before taking a detailed fetal echocardiographic examination.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of Smith-Lemli-Opitz syndrome based on recognition of fetal ambiguous genitalia in association with congenital heart disease

Murlewska,

Witkowski,

Gach

et al. 2023

pcard

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Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disease caused by a mutation in the 7-dehydrocholesterol reductase gene (DHCR7) on chromosome 11, which leads to 7-dehydrocholesterol reductase enzyme defects. This results in the building up of toxic by-products of cholesterol production in the blood and the nervous system. All this affects the growth and development of human body systems. We presented a case of a fetus of a pregnant woman with a high-risk pregnancy after IVF. The patient was referred for a fetal karyotype test, which showed a male sex (46, XY). This woman was referred to our centre for fetal heart evaluation. Based on our protocol established at the Department of Prenatal Cardiology of the Institute of the Polish Mother's Health Centre in Lodz, our examination starts with obstetrical screening, including ultrasound fetal gender evaluation. At this point of examination, the fetus presented ambiguous genitalia and fetal polydactyly. The fetal echocardiographic examination revealed atrioventricular septal defect. The presence of ambiguous genitalia and atrioventricular septal defect allowed us to suspect SLOS. As a result, further diagnostic steps were suggested, and the diagnosis was confirmed. The family chose comfort care with no postnatal intervention and planned the next pregnancy with another donor. We would like to underline the importance of a detailed ultrasound protocol before fetal echocardiographic examination for its proper interpretation.

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Section: Discussionmentioning

confidence: 99%