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J Hum Genet ; 64(9): 875-883, 2019 Sep.
Article En | MEDLINE | ID: mdl-31273320

Micrognathia is a common craniofacial deformity which represents hypoplastic development of the mandible, accompanied by retrognathia and consequent airway problems. Usually, micrognathia is accompanied by multiple systematic defects, known as syndromic micrognathia, and is in close association with genetic factors. Now, large quantities of pathogenic genes of syndromic micrognathia have been revealed. However, how these different pathogenic genes could lead to similar phenotypes, and whether there are some common characteristics among these pathogenic genes are still unknown. In this study, we proposed a genetic-phenotypic classification of syndromic micrognathia based on pathogenic genes information obtained from Phenolyzer, DAVID, OMIM, and PubMed database. Pathogenic genes of syndromic micrognathia could be divided into four groups based on gene function, including cellular processes and structures, cell metabolism, cartilage and bone development, and neuromuscular function. In addition, these four groups exhibited various clinical characteristics, and the affected systems, such as central nervous system, skeletal system, cardiovascular system, oral and dental system, respiratory system and muscle, were different in these four groups. This classification could provide meaningful insights into the pathogenesis of syndromic micrognathia, and offer some clues for understanding the molecular mechanism, as well as guiding precise clinical diagnosis and treatment for syndromic micrognathia.

Mandible/pathology , Micrognathism/classification , Micrognathism/genetics , Micrognathism/pathology , Phenotype , Humans , Syndrome
Am J Med Genet A ; 173(4): 938-945, 2017 Apr.
Article En | MEDLINE | ID: mdl-28328130

Auriculocondylar syndrome, mainly characterized by micrognathia, small mandibular condyle, and question mark ears, is a rare disease segregating in an autosomal dominant pattern in the majority of the families reported in the literature. So far, pathogenic variants in PLCB4, GNAI3, and EDN1 have been associated with this syndrome. It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter- and intra-familial clinical variability, with some patients not presenting the typical phenotype of the syndrome. Moreover, only a few patients of each molecular subtype of Auriculocondylar syndrome have been reported and sequenced. Therefore, the spectrum of clinical and genetic variability is still not defined. In order to address these questions, we searched for alterations in PLCB4, GNAI3, and EDN1 in patients with typical Auriculocondylar syndrome (n = 3), Pierre Robin sequence-plus (n = 3), micrognathia with additional craniofacial malformations (n = 4), or non-specific auricular dysplasia (n = 1), which could represent subtypes of Auriculocondylar syndrome. We found novel pathogenic variants in PLCB4 only in two of three index patients with typical Auriculocondylar syndrome. We also performed a detailed comparative analysis of the patients presented in this study with those previously published, which showed that the pattern of auricular abnormality and full cheeks were associated with molecularly characterized individuals with Auriculocondylar syndrome. Finally, our data contribute to a better definition of a set of parameters for clinical classification that may be used as a guidance for geneticists ordering molecular testing for Auriculocondylar syndrome. © 2017 Wiley Periodicals, Inc.

Ear Diseases/diagnosis , Ear/abnormalities , Genetic Predisposition to Disease , Micrognathism/diagnosis , Mutation , Phospholipase C beta/genetics , Pierre Robin Syndrome/diagnosis , Adult , Child , Ear/pathology , Ear Diseases/classification , Ear Diseases/genetics , Ear Diseases/pathology , Endothelin-1/genetics , Female , GTP-Binding Protein alpha Subunits, Gi-Go/genetics , Gene Expression , Genes, Dominant , High-Throughput Nucleotide Sequencing , Humans , Male , Micrognathism/classification , Micrognathism/genetics , Micrognathism/pathology , Pedigree , Phenotype , Pierre Robin Syndrome/classification , Pierre Robin Syndrome/genetics , Pierre Robin Syndrome/pathology , Terminology as Topic
Congenit Anom (Kyoto) ; 50(3): 171-4, 2010 Sep.
Article En | MEDLINE | ID: mdl-20507350

Cerebro-costo-mandibular syndrome (CCMS) is a very rare syndrome characterized by micrognathia and posterior rib gap, with a poor prognosis. To date, only 75 cases have been reported worldwide. The overall survival rate for patients with this disorder has not been reported, and a classification of the patients on the basis of the prognosis is not yet available. The present study analyzed the figures and prognoses of past patients and documented a new case of CCMS. Formerly published case reports and personal communications were used to reveal the prognosis and classification of CCMS. The occurrence ratios of rib gap defects and of missing ribs were examined. Patients were divided into the following three groups according to their life span: lethal type, where the patients died before 1 month; severe type, where the patients lived for 1-12 months; and mild type, where they survived for more than 1 year. A comparison was made of the number of rib gaps, missing ribs, and the rib gap ratio (defined as the number of rib gaps divided by the number of all existing ribs) among these three groups. A significant difference in the number of rib defects between the lethal type and other types was noted. Short life span of severe type patients, compared to mild type, was attributed to their subjection to severe respiratory infection. CCMS can be classified into three categories--lethal, severe, and mild--according to the severity of the symptoms and prognosis.

Abnormalities, Multiple/classification , Craniofacial Abnormalities/classification , Ribs/abnormalities , Abnormalities, Multiple/diagnosis , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Micrognathism/classification , Micrognathism/diagnosis , Prognosis , Syndrome
Int J Pediatr Otorhinolaryngol ; 67(5): 473-7, 2003 May.
Article En | MEDLINE | ID: mdl-12697349

The congenital anomaly of extreme microglossia is uncommon and fewer than 50 cases have been described. The microglossia has often occurred in association with limb abnormalities and, therefore, these cases have been grouped together as the hypoglossia-hypodactylia syndrome within the oromandibular-limb hypogenesis syndromes. We present five cases seen at our referral centre. Surprisingly for this number none had limb anomalies but all had marked micrognathia-Gorlin-Hall classification type 5-two requiring tracheostomy for upper airway obstruction. All required tube feeding for between 4 and 17 months. Long term follow-up is not yet available.

Micrognathism/complications , Tongue/abnormalities , Airway Obstruction/etiology , Airway Obstruction/surgery , Enteral Nutrition , Female , Humans , Infant, Newborn , Male , Micrognathism/classification , Micrognathism/therapy , Tracheostomy
Plast Reconstr Surg ; 76(1): 13-24, 1985 Jul.
Article En | MEDLINE | ID: mdl-4011767

The oromandibular limb hypogenesis syndrome is a group of anomalies affecting the mandible, tongue, and maxilla with or without reductive limb anomalies. Their genetic origin is uncertain, and no drug-induced teratogen has been clearly identified. Although many similarities exist on both an embryologic and clinical level, distinction between these entities is appropriate. A new classification system with these principles in mind is presented. Two cases are presented of glossopalatine ankylosis with hypodactyly representing the thirteenth and fourteenth cited in the world literature. One patient presented with a fatal pulmonary hypoplasia not previously reported in association with this syndrome. Three of the 14 cases with reductive limb anomalies reported have had fatal outcomes.

Abnormalities, Multiple/pathology , Mandible/abnormalities , Maxilla/abnormalities , Tongue/abnormalities , Abnormalities, Multiple/classification , Ankylosis/classification , Ankylosis/pathology , Arm/abnormalities , Female , Humans , Infant, Newborn , Leg/abnormalities , Male , Micrognathism/classification , Pierre Robin Syndrome/classification , Pierre Robin Syndrome/pathology , Syndrome