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Atypical case of congenital maxillomandibular fusion with duplication of the craniofacial midline.

ABSTRACT: We report the first case of syngnathia with hypophyseal duplication and describe the central nervous system (CNS) and craniofacial anomalies associated with hypophyseal duplication in the reported autopsy case. We studied clinical reports, scanner images, and autopsy results of a 2-months-old female baby. The propositus had frontonasal dysmorphism, retrognathia, and bifid tongue. She also presented maxillomandibular bony fusion (syngnathia) and an intraoral hairy polyp. In the cranium, the sella turcica was broadened, with two complete hypophyses and two infundibulums. The CNS had both olfactory bulbs and corpus callosum agenesis. There are 27 previous cases of maxillomandibular fusion and seven previous autopsy cases of hypophyseal duplication associated with other frontonasal malformations. As far as the authors know, this is the first case reported in the literature that associates syngnathia with duplication of the craniofacial midline including hypophyseal duplication.

SUBMITTER: Martin LP

PROVIDER: S-EPMC3193304 | biostudies-other | 2011 Jun

REPOSITORIES: biostudies-other

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Project description:BackgroundPotocki-Shaffer syndrome (PSS) is a rare contiguous gene deletion syndrome marked by haploinsufficiency of genes in chromosomal region 11p11.2p12. Approximately 50 cases of PSS have been reported; however, a syndrome with a PSS-like clinical phenotype caused by 11p11.12p12 duplication has not yet been reported.Methods11p11.12p12 duplication syndrome was identified and evaluated using a multidisciplinary protocol. Diagnostic studies included intelligence testing, thorough physical examination, electroencephalography (EEG), magnetic resonance imaging (MRI) of the brain, ultrasonography, biochemical tests and karyotype analysis. Next-generation sequencing analysis clarified the location of the chromosomal variations, which was confirmed by chromosome microarray analysis (CMA). Whole-exome sequencing (WES) was performed to exclude single nucleotide variations (SNVs). A wider literature search was performed to evaluate the correlation between the genes contained in the chromosomal region and clinical phenotypes.ResultsThe proband was a 36-year-old mother with intellectual disability (ID) and craniofacial anomalies (CFA). She and her older son, who had a similar clinical phenotype, both carried the same 11p11.12p12 duplication with a copy number increase of approximately 10.5 Mb (chr11:40231033_50762504, GRCh37/hg19) in chromosome bands 11p11.12p12. In addition, she gave birth to a child with a normal phenotype who did not carry the 11p11.12p12 duplication. By literature research and DECIPHER, we identified some shared and some distinct features between this duplication syndrome and PSS. One or more of ALX4, SLC35C1, PHF21A and MAPK8IP1 may be responsible for 11p11.12p12 duplication syndrome.ConclusionsWe present the first report of 11p11.12p12 duplication syndrome. It is an interesting case worth reporting. The identification of clinical phenotypes will facilitate genetic counselling. A molecular cytogenetic approach was helpful in identifying the genetic aetiology of the patients and potential candidate genes with triplosensitive effects involved in 11p11.12p12 duplication.

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Atypical case of congenital maxillomandibular fusion with duplication of the craniofacial midline.

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