C syndrome, also known as Opitz trigonocephaly syndrome (OTCS) or C Syndrome, is a rare and heterogeneous genetic disorder with a broad range of severity.
C syndrome consists of trigonocephaly and dysmorphic craniofacial features as the hallmark features. In the literature, there are just about 60 cases of this syndrome. OTCS's vast clinical range overlaps with that of other clinical entities, further complicating the diagnosis.
Several chromosomal disorders have been linked to trigonocephaly. Sargent et al. presented a case with first-cousin parents and two afflicted siblings. Clinically, OTCS is quite variable, with a wide range of severity. It is characterized by a significant developmental delay. However, there have been reports of instances with mild to normal intelligence. One of its key characteristics is trigonocephaly, which, while not exclusive, has become essential and definitional of OTCS.
Female pseudohermaphroditism, gingival overgrowth, and hypoplasia of the ear cartilage are also commonly observed. Occasionally, patients with OTCS can also exhibit cleft palate, congenital diaphragmatic hernia, constipation, toe, and hand polydactyly. Many of the patients had epileptic fits at some point during their lives. Usually, pregnancies are uneventful, however, anhydramnios caused by renal anomalies or some of the most serious congenital defects can be discovered by ultrasonography.
The labor and delivery happened on their own. At one and five minutes, the Apgar score was 9 and 10, respectively.
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