Muenke syndrome is an autosomal dominant genetic disorder that is typically characterized by unilateral or bilateral coronal synostosis, macrocephaly, midface hypoplasia, and developmental delays. This article reports a case of Muenke syndrome with a soft cleft palate. A heterozygous missense mutation c.749C>G (p.P250A) was identified in the FGFR3 gene through genetic testing. The patient exhibited typical features including coronal synostosis, bilateral hearing loss, right accessory auricle, and developmental delays and underwent surgery to repair the soft cleft palate. Cases of Muenke syndrome with cleft palate in the literature are relatively rare, and common associated symptoms include coronal suture craniosynostosis and hearing impairment. This article reports a differential diagnosis with other craniosynostosis syndromes and provides a reference for clinical diagnosis and treatment.
Humans ; Cleft Palate/surgery* ; Craniosynostoses/diagnosis* ; Mutation, Missense ; Palate, Soft/abnormalities* ; Receptor, Fibroblast Growth Factor, Type 3/genetics*

Cleft lip and palate is congenital deformity in oral and maxillofacial area. Normal soft palate has velopharyngeal closure action by connecting oral cavity and nasal cavity at rest and moving upward at swallowing and specific pronunciation. Cleft palate patients with velopharyngeal insufficiency have difficulty in mastication, swallowing and pronunciation because velopharyngeal closure is incomplete. At this time, a prosthetic device used to cover palate defects is called a palatal obturator. A palatal obturator separates oral cavity and nasal cavity and recovers pronunciation, mastication, swallowing and esthetic function. The purpose of this case study is to report the results because it reaches a satisfactory result in functional and esthetic aspects through functional impression procedures using modeling compound and tissue conditioner for restoration of a cleft palate patient with velopharyngeal insufficiency.
Cleft Lip ; Cleft Palate* ; Congenital Abnormalities ; Deglutition ; Humans ; Mastication ; Mouth ; Nasal Cavity ; Palatal Obturators* ; Palate ; Palate, Soft ; Velopharyngeal Insufficiency*

McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of a female child with MKS who was transferred to the neonatal intensive care unit of Seoul National University Children's Hospital on her 15th day of life for further evaluation and management of an abdominal cystic mass. She underwent abdominal sonography, magnetic resonance imaging, genitography and cystoscopy which confirmed HMC with a transverse vaginal septum. X-rays of the hand and foot showed bony fusion of the left third and fourth metacarpal bones, right fourth dysplastic metacarpal bone and phalanx, right PAP and hypoplastic left foot with left fourth and fifth dysplastic metatarsal bones. In addition, she had soft palate cleft, mild hydronephroses of both kidneys, hypoplastic right kidney with ectopic location and mild rotation, uterine didelphys with transverse vaginal septum and low-type imperforated anus. She was temporarily treated with ultrasound-guided transurethral aspiration of the HMC. Our patient with HMC and PAP was diagnosed with MKS because she has two typical abnormality of MKS and she has no definite complications of retinal disease, learning disability, obesity and renal failure that develop in Bardet-Biedl syndrome, but not in MKS until 33 months of age. Here, we describe a case of a Korean patient with MKS.
Abnormalities, Multiple ; Anal Canal ; Bardet-Biedl Syndrome ; Child ; Cystoscopy ; Female ; Foot ; Hand ; Heart Defects, Congenital ; Humans ; Hydrocolpos ; Hydronephrosis ; Infant, Newborn ; Intensive Care, Neonatal ; Kidney ; Learning Disorders ; Magnetic Resonance Imaging ; Metacarpal Bones ; Metatarsal Bones ; Obesity ; Palate, Soft ; Polydactyly ; Renal Insufficiency ; Retinal Diseases ; Uterine Diseases

PURPOSE: Cleft palate is very common congenital malformation in Korea. It is often accompanied with middle ear disease above all otitis media. Its cause is known as the functional dysfunction of Eustachian tube by the anatomical defects of hard and soft palate. Exudative fluid collection & inflammation is occurred on middle ear whose clearance and protection is inhibited by Eustachian tube blockage. Previous reported otitis media prevalence is various from 40% to 90% depends on regions and human races. MATERIALS & METHODS: For the past 5 years, from Jan. 2001 to Dec. 2005, we had been treated 144 cleft palate patients in Dong-A university medical center. The retrospective study was carried on the base of patient hospital course and operation records. RESULTS: Otitis media prevalence mean value was 73.3 % (211/288 ear), ventilation tube insertion rate was 85.3% (180/211 ear). Prevalence by age was 89.3%, 87.5%, 73.5%, 28.8% along 0-12, 13-24, 25-36, more than 37 months each. Ventilation tube insertion rate by age was 84.7%, 87.7%, 84.0%, 84.2%. Prevalence by cleft palate type was 23.7%, 46.4%, 51.2% along submucosal, incomplete, complete type each. Ventilation tube insertion rate by type was 40.0%, 77.6%, 94.4%. CONCLUSION: The otitis media prevalence was declined as the patients grew old. But the ventilation tube insertion rate had no significant decrease. The prevalence by type was increased as the severity of deformity rise up. And the ventilation tube insertion rate was also increased.
Academic Medical Centers ; Cleft Palate* ; Congenital Abnormalities ; Continental Population Groups ; Ear, Middle ; Eustachian Tube ; Humans ; Inflammation ; Korea ; Otitis Media* ; Otitis* ; Palate, Soft ; Prevalence* ; Retrospective Studies ; Ventilation

Nasal congestion is one of the most common symptoms of medical complaints. Snoring is caused by vibration of the uvula and the soft palate. Nasal obstruction may contribute not only to snoring and obstructive sleep apnea (OSA) but also impair application of continuous nasal positive airway pressure (CPAP), which is the most widely employed treatment for OSA. Total or near-total nasal obstruction leads to mouth breathing and has been shown to cause increased airway resistance. However, the exact role of the nasal airway in the pathogenesis of OSA is not clear and there is no consensus about the role of nasal obstruction in snoring and sleep apnea. Some reports have failed to demonstrate any correlation between snoring and nasal obstruction. On the other hand, opposing reports suggest that nasal disease may cause sleep disorders and that snoring can be improved after nasoseptal surgery. Reduced cross-sectional area causes increased nasal resistance and predisposes the patient to inspiratory collapse of the oropharynx, hypopharynx, or both. Discrete abnormalities of the nasal airway, such as septal deformities, nasal polyps, and choanal atresia and with certain mucosal conditions such as sinusitis, allergic rhinitis and inferior turbinate hypertrophy can cause snoring or OSA. Thus, these sources of nasal obstruction should be corrected medically or surgically for the effective management of OSA and adjunctive for CPAP.
Airway Resistance ; Choanal Atresia ; Congenital Abnormalities ; Consensus ; Estrogens, Conjugated (USP) ; Hand ; Humans ; Hypertrophy ; Hypopharynx ; Mouth Breathing ; Nasal Obstruction ; Nasal Polyps ; Nose ; Nose Diseases* ; Oropharynx ; Palate, Soft ; Rhinitis ; Sinusitis ; Sleep Apnea Syndromes* ; Sleep Apnea, Obstructive ; Sleep Wake Disorders ; Snoring* ; Turbinates ; Uvula ; Vibration

OBJECTIVEThe purpose of this study was to retrospect the prognosis of simultaneous repair of cleft lip and closure of cleft hard palate with vomer flaps in patients with unilateral complete cleft lip and palate.

METHODSA retrospective study was carried out in 47 patients with unilateral complete cleft lip and palate and, simultaneously received repair of cleft lip and closure of cleft hard palate with vomer flaps. The duration of operation, as well as the blood loss during the operation was recorded, and compared with those patients who only received cleft lip repair.

RESULTSAll the operations were successful, and the wound healed well. The procedure of simultaneous repair of cleft lip and closure of cleft hard palate with vomer flaps did not prolong the operating time, compared with simple cleft lip repair. No blood transfusion was needed due to closure of cleft hard palates with vomer flaps.

CONCLUSIONSimultaneous repairs of cleft lip and closure of cleft hard palate with vomer flaps are safe for patients with unilateral complete cleft lip and palate.

Abnormalities, Multiple ; surgery ; Cleft Lip ; surgery ; Cleft Palate ; surgery ; Female ; Humans ; Infant ; Male ; Maxillofacial Development ; Palate, Hard ; surgery ; Palate, Soft ; surgery ; Reconstructive Surgical Procedures ; methods ; Surgical Flaps

palate. The patient's congenital deformities had included oronasal fistula on the soft palate and bifid uvula. Furrow double-opposing Z-plasty was performed under general anesthesia. However, postoperative bleeding developed at ward. Despite the pressure of operative wound, venous oozing continued and hemoglobin concentration and RBC were decreased (Hb: 5.5g/dL, RBC: 1.98 x106/mm3). The patient was pale and confused and transferred to Surgical Intensive Care Unit(SICU). We could not keep the peripheral venous line and there was a high risk of hypovolemic shock. Emergency transfusion was performed through the central femoral venous line and emergency operation for bleeding control was carried out. We explored the operation site and found bleeding point from the posterior pharyngeal wall. Electrocoagulation and surgicel packing were carried out and bleeding was stopped.]]>
Anesthesia, General ; Cleft Palate ; Congenital Abnormalities ; Electrocoagulation ; Emergencies ; Fistula ; Hemorrhage ; Humans ; Infant ; Critical Care ; Palate, Soft ; Shock ; Uvula ; Wounds and Injuries