Global developmental delay (GDD) and intellectual disability (ID) refer to deficits in cognitive and adaptive functioning that arise during the developmental period. GDD/ID is often accompanied by complex developmental abnormalities, with congenital craniofacial malformations being among the most common, such as craniosynostosis, cleft lip and palate, and congenital tooth agenesis. However, the underlying mechanisms of GDD/ID associated with congenital craniofacial malformations remain unclear. With the increasing number of reported genetic syndromes, genetic factors are emerging as key contributors to the concurrent abnormalities in brain and craniofacial development. Studies have identified Wnt, SHH, FGF, and BMP as classical regulatory molecules in craniofacial development, and their roles have also been closely linked to various stages of brain development. This review focuses on the regulatory roles of Wnt, SHH, FGF, and BMP signaling pathways in brain and craniofacial development, as well as the pathogenic mechanisms underlying their association with GDD/ID and craniofacial malformations. The aim is to provide new insights into the etiology of GDD/ID combined with congenital craniofacial malformations.
Humans ; Craniofacial Abnormalities/complications* ; Signal Transduction ; Developmental Disabilities/metabolism* ; Intellectual Disability/complications* ; Animals ; Hedgehog Proteins/genetics* ; Fibroblast Growth Factors/genetics*

A 21-year-old man with diabetic ketoacidosis (DKA) displayed short and clubbed fingers and marked eyebrow, which are typical of Hajdu-Cheney Syndrome (HCS). Laboratory findings confirmed type 1 diabetes mellitus (DM). After conservative care with hydration and insulin supply, metabolic impairment was improved. Examinations of bone and metabolism revealed osteoporosis and craniofacial abnormalities. The mutation (c.6443T>G) of the NOTCH2 gene was found. The patient was diagnosed with HCS and DM. There may be a relationship between HCS and DM, with development of pancreatic symptoms related to the NOTCH2 gene mutation.
Adult ; Bone Density ; Craniofacial Abnormalities/complications/radiography ; Diabetes Mellitus, Type 1/*complications/diagnosis ; Diabetic Ketoacidosis/complications/genetics ; Glycosuria ; Hajdu-Cheney Syndrome/*complications/diagnosis/radiography ; Humans ; Ketone Bodies/urine ; Male ; Mutation ; Osteoporosis/complications/radiography ; Receptor, Notch2/*genetics ; Young Adult

Branchial cleft anomalies are the second most common head and neck congenital lesions seen in children. Amongst the branchial cleft malformations, second cleft lesions account for 95 % of the branchial anomalies. This article analyzes all the cases of second branchial cleft anomalies operated on at Seoul National University Hospital from September 1995 to February 2011. We analyzed sex, age, symptom and sign, accompanied anomaly, diagnosis, treatment, pathologic report and outcome via retrospective review of medical records. In this series, we had 61 patients (27 female and 34 male). The mean age at the time of operation was 38 months. 31 lesions were on the right, 20 were on the left and 10 were bilateral. The most frequent chief complaints at presentation were non-tender mass and cervical opening without any discharge. According to anatomic type, 29 patients had branchial cleft sinuses, 14 had cysts, 14 had fistulas and 4 had skin tags. Complete excision was attempted if possible and antibiotics challenged when infection was suspected. Complete excision was achieved in 96.7 % of cases. Incision and drainage was done in 2 cases due to severe inflammation, and both recurred. Postoperative complications included wound infection in 2 cases. Microscopic examonation revealed squamous epithelium in 90.2 % and squamous metaplasia in one case in the branchial cleft cyst wall. In summary, second branchial anomaly is found more frequently on right side of neck. Fistulas are diagnosed earlier than cystic forms. Most cases could be diagnosed by physical examination. The definitive treatment is complete excision and sufficient antibiotics coverage for cases with inflammation. After drainage of infected lesions, follow up excision after 1 year might be beneficial for preventing recurrence.
Anti-Bacterial Agents ; Branchial Region ; Branchioma ; Child ; Craniofacial Abnormalities ; Drainage ; Epithelium ; Female ; Fistula ; Follow-Up Studies ; Head ; Humans ; Inflammation ; Medical Records ; Metaplasia ; Neck ; Pharyngeal Diseases ; Physical Examination ; Postoperative Complications ; Recurrence ; Retrospective Studies ; Skin ; Wound Infection

OBJECTIVEFor reconstruction of secondary orbit-zygomatic deformities after severe malar fracture.

METHODSWe made shaped segments in orbito-zygoma region using lamella osteotomy, rearranged inferior and lateral orbital segment with inner and upper movement, and fixed the zygomatic fragment in new place with lateral and upward movement. Pre and post operative measurements including Hetel measurement and the angle between orbital horizontal level with bilateral tragus linkage(A-OT) have been done.

RESULTSIn our 22 cases list, lateral and inferior orbital segment was moved to upper and inner direction with 8.1 mm in average, while zygomatic fragent was lift 9.2 mm and pushed 1.5 mm in average. In average 6.5 months follow-up, good facial contour were maintained in most of our list and no obvious relapse was occurred.

CONCLUSIONSLamella osteotomy with separated segments movement was benefit to most of secondary deformities in orbito-zygoma displace.

Adolescent ; Adult ; Craniofacial Abnormalities ; etiology ; surgery ; Humans ; Male ; Middle Aged ; Orbit ; abnormalities ; surgery ; Orbital Fractures ; complications ; Osteotomy ; methods ; Young Adult ; Zygoma ; abnormalities ; surgery