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Sci Rep ; 11(1): 9881, 2021 05 10.
Article En | MEDLINE | ID: mdl-33972643

In children with mandibular hypoplasia, airway management is challenging. However, detailed cephalometric assessment data for this population are sparse. The aim of this study was to find risk factors for predicting difficult airways in children with mandibular hypoplasia, and compare upper airway anatomical differences using three-dimensional computed tomography (3D CT) between children with mandibular hypoplasia and demographically matched healthy controls. There were significant discrepancies in relative tongue position (P < 0.01) and anterior distance of the hyoid bone (P < 0.01) between patients with mandibular hypoplasia and healthy controls. All mandibular measures were significantly different between the two groups, except for the height of the ramus of the mandible. After adjusting for age and sex, the anterior distance of hyoid bone and inferior pogonial angle were significantly associated with a difficult airway (P = 0.01 and P = 0.02). Quantitative analysis of upper airway structures revealed significant discrepancies, including relative tongue position, hyoid distance, and mandible measures between patients with mandibular hypoplasia and healthy controls. The anterior distance of the hyoid bone and inferior pogonial angle may be risk factors for a difficult airway in patients with mandibular hypoplasia.

Airway Management/adverse effects , Critical Illness/therapy , Mandible/diagnostic imaging , Micrognathism/complications , Airway Management/statistics & numerical data , Case-Control Studies , Cephalometry/statistics & numerical data , Child , Child, Preschool , Female , Healthy Volunteers , Humans , Imaging, Three-Dimensional , Infant , Male , Mandible/abnormalities , Micrognathism/diagnosis , Risk Assessment/methods , Risk Assessment/statistics & numerical data , Risk Factors , Tomography, X-Ray Computed , Treatment Failure
BMJ Case Rep ; 14(1)2021 Jan 18.
Article En | MEDLINE | ID: mdl-33461995

We report a child, diagnosed with Coffin-Siris syndrome (CSS), with chronic right otorrhoea. CT and DR-MRI were performed to further investigate, diagnose and determine relevant surgical anatomy. CT temporal bones assessment was performed, and the measurements compared with previously published data for normal temporal bone anatomy. These comparisons highlighted various differences which were not initially expected; it showed that there were multiple inner ear abnormalities in addition to middle ear disease. This case highlights the importance of considering temporal bone abnormalities in all children with CSS or any dysmorphia, when they may require mastoid procedures. Reviewing the management of this case provides relevant learning opportunities for both primary, secondary and tertiary care institutions.

Abnormalities, Multiple/diagnostic imaging , Bone Diseases, Developmental/etiology , Face/abnormalities , Hand Deformities, Congenital/diagnostic imaging , Intellectual Disability/diagnostic imaging , Magnetic Resonance Imaging , Micrognathism/diagnostic imaging , Neck/abnormalities , Temporal Bone/abnormalities , Tomography, X-Ray Computed , Bone Diseases, Developmental/diagnostic imaging , Child , Face/diagnostic imaging , Hand Deformities, Congenital/complications , Humans , Intellectual Disability/complications , Male , Micrognathism/complications , Neck/diagnostic imaging , Temporal Bone/diagnostic imaging
Laryngoscope ; 131(4): E1357-E1362, 2021 04.
Article En | MEDLINE | ID: mdl-32770766

OBJECTIVE: Detection of fetal airway compromise through imaging raises the possible need for ex utero intrapartum treatment (EXIT) procedures. Despite EXIT procedures involving massive resource utilization and posing increased risk to the mother, decisions for EXIT are usually based on anecdotal experience. Our objectives were to analyze prenatal consultations with potential fetal airway obstruction for imaging and obstetric findings used to determine management strategy. METHODS: Retrospective chart review was performed for prenatal abnormal fetal airway consults between 2004-2019 at a quaternary pediatric facility. Data collected included demographics, imaging characteristics, delivery information, and airway management. Our primary outcome was EXIT performance and the secondary outcome was postnatal airway management. Fisher's exact test was used to compare management decisions, outcomes, and imaging findings. RESULTS: Thirty-seven patients met inclusion criteria. The most common diagnoses observed were lymphatic malformation, teratoma, and micrognathia. Of the imaging findings collected, only midline neck mass location was associated with EXIT procedure performance. Factors associated with invasive airway support at birth were mass-induced in-utero neck extension and neck vessel compression, polyhydramnios, and micrognathia. CONCLUSIONS: Multidisciplinary input and interpretation of prenatal imaging can guide management of fetal airway-related pathology. EXIT is an overall safe procedure and can decrease risk due to airway obstruction at birth. We identified in-utero neck extension, neck vessel compression, micrognathia, and polyhydramnios as better indicators of a need for invasive airways measures at birth and suggest use of these criteria in combination with clinical judgement when recommending EXIT. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:E1357-E1362, 2021.

Airway Management/methods , Airway Obstruction/diagnostic imaging , Cesarean Section/statistics & numerical data , Neck/diagnostic imaging , Ultrasonography, Prenatal/methods , Adult , Airway Management/statistics & numerical data , Airway Obstruction/therapy , Cesarean Section/trends , Female , Fetal Diseases/diagnosis , Fetal Diseases/pathology , Gestational Age , Humans , Lymphatic Abnormalities/complications , Male , Micrognathism/complications , Neck/anatomy & histology , Neck/blood supply , Neck/pathology , Pregnancy , Retrospective Studies , Teratoma/complications
J Craniomaxillofac Surg ; 49(2): 75-83, 2021 Feb.
Article En | MEDLINE | ID: mdl-33358117

This study aimed to evaluate the outcomes following a dynamic orthognathic surgical procedure performed at the end of growth to treat asymmetric maxillomandibular deformities linked to unilateral micrognathia when conventional orthognathic surgery was not feasible. The dynamic orthognathic surgical procedure (DOSP) combined concomitant mandibular distraction osteogenesis with contralateral poorly stabilized sagittal split osteotomy and Le Fort I osteotomy. Cephalometric studies were retrospectively conducted on pre- and postoperative lateral and frontal cephalographs, and maxillomandibular movements were calculated. Outcome scores were computed by both experts and laypersons based on photographic analyses. There was a significant postoperative increase in height of the micrognathic ramus in all patients (n = 12; p = 0.002). The angle between the occlusal cant and horizontal reference plane decreased significantly in all of the patients, as did the angle between the midline sagittal plane and mandibular tilt (p < 0.001). Postoperative outcome scores showed significant improvements in all cases, according to both expert and layperson groups. This procedure allows correction of maxillomandibular asymmetries linked to micrognathia. However, it cannot resolve all the factors participating in facial asymmetry, such as those originating in the oculo-auriculo-ventricular spectrum or complex tumor sequelae, and second-step procedures may be required.

Micrognathism , Orthognathic Surgical Procedures , Cephalometry , Facial Asymmetry/diagnostic imaging , Facial Asymmetry/etiology , Facial Asymmetry/surgery , Humans , Mandible/diagnostic imaging , Mandible/surgery , Micrognathism/complications , Micrognathism/diagnostic imaging , Micrognathism/surgery , Osteotomy, Le Fort , Osteotomy, Sagittal Split Ramus , Retrospective Studies , Treatment Outcome
Clin Genet ; 98(2): 147-154, 2020 08.
Article En | MEDLINE | ID: mdl-32385905

Variants in the FIG4 gene, which encodes a phosphatidylinositol-3,5-bisphosphatase lead to obstruction of endocytic trafficking, causing accumulation of enlarged vesicles in murine peripheral neurons and fibroblasts. Bi-allelic pathogenic variants in FIG4 are associated with neurological disorders including Charcot-Marie-Tooth disease type-4J (CMT4J) and Yunis-Varón syndrome (YVS). We present four probands from three unrelated families, all homozygous for a recurrent FIG4 missense variant c.506A>C p.(Tyr169Ser), with a novel phenotype involving features of both CMT4J and YVS. Three presented with infant-onset dystonia and one with hypotonia. All have depressed lower limb reflexes and distal muscle weakness, two have nerve conduction studies (NCS) consistent with severe sensorimotor demyelinating peripheral neuropathy and one had NCS showing patchy intermediate/mildly reduced motor conduction velocities. All have cognitive impairment and three have swallowing difficulties. MRI showed cerebellar atrophy and bilateral T2 hyperintense medullary swellings in all patients. These children represent a novel clinicoradiological phenotype and suggest that phenotypes associated with FIG4 missense variants do not neatly fall into previously described diagnoses but can present with variable features. Analysis of this gene should be considered in patients with central and peripheral neurological signs and medullary radiological changes, providing earlier diagnosis and informing reproductive choices.

Charcot-Marie-Tooth Disease/genetics , Cleidocranial Dysplasia/genetics , Ectodermal Dysplasia/genetics , Flavoproteins/genetics , Genetic Predisposition to Disease , Limb Deformities, Congenital/genetics , Micrognathism/genetics , Phosphoric Monoester Hydrolases/genetics , Age of Onset , Charcot-Marie-Tooth Disease/complications , Charcot-Marie-Tooth Disease/pathology , Child , Child, Preschool , Cleidocranial Dysplasia/complications , Cleidocranial Dysplasia/pathology , Dystonia/complications , Dystonia/genetics , Dystonia/pathology , Ectodermal Dysplasia/complications , Ectodermal Dysplasia/pathology , Female , Genotype , Humans , Limb Deformities, Congenital/complications , Limb Deformities, Congenital/pathology , Male , Micrognathism/complications , Micrognathism/pathology , Muscle Hypotonia/complications , Muscle Hypotonia/genetics , Muscle Hypotonia/pathology , Mutation/genetics , Pedigree , Phenotype
Medicine (Baltimore) ; 99(4): e18648, 2020 Jan.
Article En | MEDLINE | ID: mdl-31977854

RATIONALE: Micrognathia is a subtle facial malformation characterized by a small mandible and receding chin. Fetal micrognathia is often associated with chromosomal abnormalities, skeletal dysplasia, and various syndromes. Once it is dignosised, detailed fetal malformation screening and chromosome examination should be carried out. PATIENT CONCERN: One pregnant woman with suspicion of fetal micrognathia was referred from her local hospital to our hospital for detailed fetal malformation screening and fetal echocardiography. Examination of the fetus was performed using a two-dimensional and three-dimensional ultrasound probe in multiple planes. The fetus showed micrognathia without glossoptosis with features of the inferior facial angle (IFA) ≤50° and his tongue reached anterior mandibular border box during normal movement. DIAGNOSES: The fetus was diagnosed as isolated micrognathia prenatally without multisystem abnormalities. INTERVENTIONS: Amniocentesis was performed and the fetus was found to carry 46XN with 6q14.1 duplication, the significance of which was unclear. OUTCOMES: The fetus was labored through vagina at 38 weeks gestation. A small soft cleft palate was diagnosed after delivery. LESSONS: This case suggests that once prenatal diagnosis of the fetal micrognathia has been made, we should carefully examine the presence of fetus's multisystem developmental abnormalities and due consideration should be given for associated soft cleft palate.

Micrognathism/diagnosis , Ultrasonography, Prenatal/methods , Amniocentesis , Cleft Palate/complications , Cleft Palate/diagnosis , Female , Gestational Age , Humans , Infant, Newborn , Micrognathism/complications , Micrognathism/diagnostic imaging , Palate, Soft/abnormalities , Pregnancy
Int J Pediatr Otorhinolaryngol ; 128: 109735, 2020 Jan.
Article En | MEDLINE | ID: mdl-31675646

Coffin-Siris Syndrome (CSS) is a genetic syndrome associated with multiple congenital anomalies due to mutations in the BAF-complex or SOX gene. Although well characterized overall, the subunits of the BAF-complex or SOX gene affected demonstrate phenotypic differences which are continuing to be defined. Among the variants is the SMARCE1 mutation, the least common identified genotype. This case report presents a pediatric patient with SMARCE1-related CSS, the seventh case reported in the literature. The congenital anomalies are discussed and compared to the reported cases of SMARCE1-related CSS and CSS overall with an emphasis on otolaryngologic manifestations.

Face/abnormalities , Hand Deformities, Congenital/complications , Intellectual Disability/complications , Micrognathism/complications , Neck/abnormalities , Abnormalities, Multiple , Child, Preschool , Chromosomal Proteins, Non-Histone/genetics , Cleft Lip/etiology , DNA-Binding Proteins/genetics , Developmental Disabilities/etiology , Epiglottis/abnormalities , Hearing Loss, Conductive/etiology , Humans , Macroglossia/etiology , Male , Micrognathism/etiology , Middle Ear Ventilation , Mutation , Otitis Media/etiology , Otitis Media/therapy , Palate/abnormalities , Tracheomalacia/congenital
Rev. bras. cir. plást ; 34(2): 228-236, apr.-jun. 2019. ilus, tab
Article En, Pt | LILACS | ID: biblio-1015972

Introdução: Muitos pacientes portadores de sequência de Pierre Robin (micrognatia, glossoptose e obstrução de via aérea) apresentam o músculo genioglosso alterado, encurtado e retrátil, que impede a protração lingual, mantendo a parte anterior da língua verticalizada e seu volume deslocado em direção posterior. Isso pode corroborar para obstrução supraglótica, dificuldade alimentar e inversão das forças de estímulo do crescimento do corpo mandibular. Métodos: Estudo retrospectivo de pacientes com Pierre Robin tratados entre 2012 e 2017 pela equipe, com descrição da "ortoglossopelveplastia", que propõe uma modificação na glossopexia, soltando o genioglosso anômalo da sua inserção, liberando a língua para elevar seu terço anterior e avançar o volume de sua base, sendo auxiliada por ponto de tração da base lingual à sínfise mandibular. Apresentamos um algoritmo de tratamento proposto que prioriza a necessidade desta cirurgia, associada ou não à distração mandibular, de acordo com a gravidade da dificuldade respiratória e/ou alimentar. Resultados: São apresentados 12 casos de obstrução da orofaringe atendidos de 2012 a 2017, discutem-se suas prioridades, a ortoglossopelveplastia e se aplica o algoritmo proposto. Conclusão: A reorganização anatômica da musculatura em uma posição anteriorizada correta proporciona protração e funcionalidade à língua, com desobstrução da via aérea na orofaringe, melhora da função alimentar e do desenvolvimento mandibular, com baixa morbidade cirúrgica e poucas complicações.

Introduction: Several patients with the Pierre Robin sequence (micrognathia, glossoptosis, and airway obstruction) have an altered, shortened, and retractable genioglossus muscle that prevents protraction of the tongue and keeps the anterior part of the tongue vertical and its volume posteriorly displaced. This can contribute to supraglottic obstruction, feeding difficulty, and inversion of the growth stimulation forces of the mandibular body. Methods: A retrospective study of patients with the Pierre Robin sequence treated between 2012 and 2017 with "orthoglossopelveplasty," which includes modification of glossopexy, releasing the anomalous genioglossus of its insertion and releasing the tongue to raise its anterior third and advance the volume of its base using a traction suture of the tongue base to the mandible symphysis. We present a treatment algorithm that prioritizes the need for surgery associated, or not, with mandibular distraction in accordance with respiratory and/or feeding difficulty severity. Results: Twelve cases of oropharyngeal obstruction treated from 2012 to 2017 are presented, their priorities and orthoglossopleoplasty are discussed, and the proposed algorithm is applied. Conclusion: Anatomical reorganization of the musculature in a correct anterior position provides protraction and functionality to the tongue, clears the airway in the oropharynx, and improves the feeding function and mandibular development, with low surgical morbidity rates and few complications.

Humans , Pierre Robin Syndrome/surgery , Pierre Robin Syndrome/complications , Osteogenesis, Distraction/methods , Glossopharyngeal Nerve Diseases/surgery , Glossopharyngeal Nerve Diseases/complications , Airway Obstruction/surgery , Airway Obstruction/complications , Airway Obstruction/diagnosis , Glossoptosis/surgery , Glossoptosis/pathology , Micrognathism/surgery , Micrognathism/complications , Mouth Floor/abnormalities , Mouth Floor/surgery
J Coll Physicians Surg Pak ; 28(9): S184-S186, 2018 Sep.
Article En | MEDLINE | ID: mdl-30173692

Obstructive sleep apnea syndrome (OSAS), commonly associated with mandibular micrognathia, is a serious condition that can lead to various devastating cardiovascular and neurocognitive consequences. Patients of OSAS with micrognathia present with many functional and esthetic problems. Therefore, comprehensive management of these patients requires multiple surgeries and frequent follow-up. Several surgical and non-surgical treatment options have been proposed for the treatment of OSAS. Distraction osteogenesis (DO) in maxillofacial region, although a newer treatment modality, is being increasingly favoured by many surgeons because of its many advantages over other treatment methods. We present comprehensive management of a case of OSAS associated with post temporomandibular joint ankylosis severe micrognathia. Various surgical treatment methods including DO and conventional orthognathic surgical procedures were employed in management of this patient of obstructive sleep apnea. Both functional and esthetic complaints of the patient were addressed, and we achieved exceptional results at the end of treatment.

Ankylosis/surgery , Mandible/surgery , Micrognathism/surgery , Osteogenesis, Distraction/methods , Reconstructive Surgical Procedures/methods , Sleep Apnea, Obstructive/complications , Temporomandibular Joint Disorders/surgery , Ankylosis/complications , Female , Humans , Micrognathism/complications , Sleep Apnea, Obstructive/therapy , Temporomandibular Joint Disorders/complications , Treatment Outcome , Young Adult
Cranio ; 36(1): 65-69, 2018 Jan.
Article En | MEDLINE | ID: mdl-28198643

OBJECTIVE: The authors present a case of obstructive sleep apnea associated with severe mandibular micrognathia treated by mandibular bone distraction with curvilinear system planned under computer assistance. CLINICAL PRESENTATION: A 15-year-old child with limited compliance to continuous positive airway therapy was referred to the authors' department. Observation revealed severe mandibular micrognathia as the major cause for obstructive sleep apnea syndrome. The first polysomnography study revealed 14 obstructive apneas, 16 obstructive hypopneas, and 4.6/h apnea-hypopnea index. CONCLUSION: Mandibular distraction osteogenesis can be a successful technique in alleviating upper airway obstruction secondary to micrognathia, while also improving the patient's appearance. Surgical planning under computer assistance is a useful tool to predict bone movements, and curvilinear distraction could be considered valuable in mandibular distraction.

Micrognathism/complications , Micrognathism/surgery , Osteogenesis, Distraction/methods , Sleep Apnea, Obstructive/etiology , Sleep Apnea, Obstructive/surgery , Adolescent , Cephalometry , Female , Humans , Polysomnography
Endocr J ; 65(2): 227-238, 2018 Feb 26.
Article En | MEDLINE | ID: mdl-29199204

Segmental progeroid syndromes with lipodystrophy are extremely rare, heterogeneous, and complex multi-system disorders that are characterized by phenotypic features of premature aging affecting various tissues and organs. In this study, we present a "sporadic/isolated" Japanese woman who was ultimately diagnosed with mandibular hypoplasia, deafness, progeroid features, and progressive lipodystrophy (MDPL) syndrome (MIM #615381) using whole exome sequencing analysis. She had been suspected as having atypical Werner syndrome and/or progeroid syndrome based on observations spanning a 30-year period; however, repeated genetic testing by Sanger sequencing did not identify any causative mutation related to various subtypes of congenital partial lipodystrophy (CPLD) and/or mandibular dysplasia with lipodystrophy (MAD). Recently, MDPL syndrome has been described as a new entity showing progressive lipodystrophy. Furthermore, polymerase delta 1 (POLD1) gene mutations on chromosome 19 have been identified in patients with MDPL syndrome. To date, 21 cases with POLD1-related MDPL syndrome have been reported worldwide, albeit almost entirely of European origin. Here, we identified a de novo mutation in exon 15 (p.Ser605del) of the POLD1 gene in a Japanese case by whole exome sequencing. To the best of our knowledge, this is the first identified case of MDPL syndrome in Japan. Our results provide further evidence that mutations in POLD1 are responsible for MDPL syndrome and serve as a common genetic determinant across different ethnicities.

Abnormalities, Multiple/diagnosis , DNA Polymerase III/genetics , Deafness/complications , Lipodystrophy/complications , Micrognathism/complications , Progeria/complications , Abnormalities, Multiple/genetics , Deafness/congenital , Deafness/diagnosis , Deafness/genetics , Delayed Diagnosis , Diagnosis, Differential , Female , Humans , Japan , Lipodystrophy/congenital , Lipodystrophy/diagnosis , Lipodystrophy/genetics , Mandible/abnormalities , Micrognathism/diagnosis , Micrognathism/genetics , Middle Aged , Mutation , Progeria/diagnosis , Progeria/genetics , Syndrome
Head Face Med ; 13(1): 20, 2017 Nov 10.
Article En | MEDLINE | ID: mdl-29126455

BACKGROUND: We describe the case of a 16-year-old female patient with micrognathia, temporomandibular joint (TMJ) ankylosis, and obstructive sleep apnea, who was treated with mandibular distraction osteogenesis (DO) combined with sliding genioplasty, using skeletal anchorage. CASE PRESENTATION: We first performed interpositional arthroplasty, in which an interposition of fascia temporalis and surrounding fat tissue was inserted into the defect after bilateral condylectomy, increasing the maximum mouth opening from 5.0 to 32.0 mm. Subsequently, orthodontic treatment and advancement of the mandible were carried out by mandibular DO, using miniscrews and miniplates. Finally, sliding genioplasty was performed to bring the tip of the mandible forward. The total amount of mandibular advancement at the menton was 16.0 mm. An improved facial appearance and good occlusion were eventually achieved, and the apnea-hypopnea index decreased from 37.1 to 8.7. There was no obvious bone resorption or pain in the temporomandibular region, limited mouth opening (maximum mouth opening: 33.0 mm), myofascial pain or headache, downward rotation of the mandible, or lateral shift of mandibular position evident at 5 years and 6 months after mandibular DO. CONCLUSION: Mandibular DO using skeletal anchorage with intermaxillary elastics is useful for preventing extrusion of the upper and lower anterior teeth, thereby preventing rotation of the mandible. In addition, mandibular DO combined with sliding genioplasty is effective at improving both dentofacial deformities and impaired respiratory function.

Ankylosis/surgery , Mandibular Advancement/methods , Micrognathism/surgery , Osteogenesis, Distraction/methods , Sleep Apnea, Obstructive/surgery , Temporomandibular Joint Disorders/surgery , Adolescent , Ankylosis/complications , Ankylosis/diagnostic imaging , Cephalometry/methods , Female , Follow-Up Studies , Humans , Micrognathism/complications , Micrognathism/diagnostic imaging , Orthodontic Anchorage Procedures/methods , Polysomnography/methods , Quality of Life , Radiography, Panoramic/methods , Risk Assessment , Sleep Apnea, Obstructive/complications , Sleep Apnea, Obstructive/diagnostic imaging , Temporomandibular Joint Disorders/complications , Temporomandibular Joint Disorders/diagnostic imaging , Treatment Outcome
J Clin Res Pediatr Endocrinol ; 9(4): 355-359, 2017 Dec 15.
Article En | MEDLINE | ID: mdl-28387648

We describe the case of a 7-year-old girl referred to our diabetes unit for hyperglycemia associated with facial dysmorphic features, intellectual disability, and cerebral cavernomas. Based on presence of anti islet antigen-2 (IA2) antibodies and a human leukocyte antigen of DR3/DR4/DQ2, the patient was initially diagnosed to be a case of type 1 diabetes mellitus. At follow-up, the very good metabolic control on a low insulin dose and negative IA2 antibodies led to a suspicion of glucokinase (GCK)-related maturity-onset diabetes of the young (MODY 2). This suspicion was substantiated in multiplex ligation-dependent probe amplification (MLPA) which showed a heterozygous GCK deletion (exons 1 to 12). However, the patient's parents did not have such a deletion and were clinically euglycemic. Given the clinical picture and the MLPA findings, array based comparative genomic hybridization was performed showing a monoallelic deletion of 7.23 Mb in the short arm of chromosome 7 (7p13-p12.1). The deleted intervals contain 39 genes listed in the Online Mendelian Inheritance in Man list, including GCK associated with MODY 2, CCM2 associated with type 2 cerebral cavernous malformations, IGFBP-3 associated with decrease in postnatal growth, and OGD associated with alpha-ketoglutarate dehydrogenase deficiency, with cognitive impairment and movement abnormalities. This previously unreported deletion was considered to explain the clinical picture of the patient. Also, the findings suggest that 7p13-p12.1 contains genes involved in intellectual disability and craniofacial development.

Chromosome Deletion , Chromosomes, Human, Pair 7 , Craniofacial Abnormalities/genetics , Hyperglycemia/genetics , Intellectual Disability/genetics , Micrognathism/genetics , Ribs/abnormalities , Child , Craniofacial Abnormalities/complications , Diabetes Mellitus, Type 2/complications , Diabetes Mellitus, Type 2/genetics , Female , Humans , Hyperglycemia/complications , Intellectual Disability/complications , Micrognathism/complications