Abnormalities, Multiple ; diagnosis ; therapy ; Asphyxia ; pathology ; Female ; Humans ; Infant ; Musculoskeletal Abnormalities ; diagnosis ; therapy ; Syndrome ; Thorax ; abnormalities

Infant hemangioma, the most common benign tumor in children, is characterized by rapid proliferation, followed by slower spontaneous involution. However, some patients with facial segmental hemangioma are associated with PHACE syndrome. PHACE syndrome is characterized by vascular nerve and vascular cutaneous lesions of multiple systemic systems, often resulting in structural and functional impairments. Recent studies have demonstrated that the possible pathogeneses of PHACE syndrome mainly include hypoxia, abnormality of mesodermal vascular endothelial cells, genetic abnormality, and abnormality of interstitial mesenchymal stem cells. The current medications for hemangioma with PHACE syndrome include beta blockers, glucocorticoids, and mTOR inhibitors. This review article mainly describes the pathogenesis, diagnoses and treatments of PHACE syndrome, in order to provide directions for diagnosis and treatment of this disorder.
Abnormalities, Multiple ; diagnosis ; etiology ; therapy ; Eye Abnormalities ; diagnosis ; etiology ; therapy ; Heart Defects, Congenital ; diagnosis ; etiology ; therapy ; Hemangioma ; diagnosis ; etiology ; therapy ; Humans ; Infant

BACKGROUND: Keratosis pilaris (KP) is a keratinization disorder that is characterized by follicular hyperkeratosis, with surrounding erythema. Topical treatments are widely used, but their effects are limited. OBJECTIVE: To evaluate the effectiveness of the Q-switched 1064-nm Nd:YAG laser for the treatment of KP. METHODS: Total of 12 patients with KP were treated with a Q-switched 1064-nm Nd:YAG laser. Ten sessions of laser treatment were delivered once every two weeks. The entire lesions were treated with the following laser settings: 4.0~5.0 J/cm2, 4-mm spot size, and three passes. Two dermatologists' clinical evaluations and patients' satisfaction were assessed between before treatment (baseline) and at 1 month after the last treatment. RESULTS: Eleven of the twelve patients showed more than grade 2 (>25%) improvement in texture and dyspigmentation in KP lesions, respectively. A half of the patients (50%) showed more than 50% improvement in the skin texture. Regarding dyspigmentation, five patients (41.7%) showed more than 50% improvement. Eleven out of twelve participants were satisfied (>25% of the Patients' self assessment) with the procedure. No significant adverse effect was observed. CONCLUSION: Although the Q-switched 1064-nm laser treatment may not be the first line therapy for KP, it might be a new treatment option for the patients with recalcitrant KP.
Abnormalities, Multiple ; Darier Disease ; Erythema ; Eyebrows ; Humans ; Keratins ; Keratosis ; Laser Therapy ; Pilot Projects ; Skin

OBJECTIVE: To investigate the morbidity of congenital heart defects(CHDs) in children with anorectal malformation, and to summarize appropriate treatment. METHODS: The clinical data and echocardiographic findings of 155 children with congenital anorectal malformations from the Third Affiliated Hospital of Zhengzhou University during January 2016 and October 2019 were reviewed. According to the surgical findings of anorectal malformations, the patients were categorized as the high/intermediate group and the low group; the CHDs were classified as minor CHDs and major CHDs. Multiple logistic regression was used to analyze the correlation of wingspread classification, and extracardiac malformations with the severity of CHDs. RESULTS: Out of 155 children with anorectal malformations, 47 (30.3%) had different types of cardiac structural malformations, including 18 cases of minor CHDs (11.6%) and 29 cases of major CHDs (18.7%). Sixty children (38.7%) had extracardiac malformations, of which 38 cases (24.5%) had a single extracardiac malformation, 15 cases (9.7%) had multiple extracardiac malformations, 6 had trisomy 21 syndrome, and 1 had VATER syndrome. Multivariate logistic regression analysis showed that wingspread classification of anorectal malformation and extracardiac disorders were independent risk factors for major CHDs. The probability of major CHDs in children with high/intermediate anorectal malformation was 4.709 times higher than that with low anorectal malformation ( CONCLUSIONS The morbidity of major CHDs is higher in severe cases with high/intermediate anorectal malformation and acute cases without fistula or with obstructed fistula and cases with multiple congenital disorders. Echocardiography can define the type and severity of CHDs, which are useful to develop the optimal diagnosis and treatment plan for children with anorectal malformation.
Abnormalities, Multiple ; Anorectal Malformations/therapy* ; Child ; Heart Defects, Congenital/mortality* ; Humans ; Retrospective Studies

PURPOSE: Kabuki syndrome is a multiple malformation syndrome that was first reported in Japan. It is characterized by distinctive Kabuki-like facial features, skeletal anomalies, dermatoglyphic abnormalities, short stature, and mental retardation. We report two cases of Kabuki syndrome with the surgical intervention and speech evaluation. METHODS: Both patients had velopharyngeal insufficiency and had a superior based pharyngeal flap operation. The preoperative and postoperative speech evaluations were performed by a speech language pathologist. RESULTS: In case 1, hypernasality was reduced in spontaneous speech, and the nasalance scores in syllable repetitions were reduced to be within normal ranges. In case 2, hypernasality in spontaneous speech was reduced from severe level to moderate level and the nasalance scores in syllable repetitions were also reduced to be within normal ranges. CONCLUSION: The goal of this article is to raise awareness among plastic surgeons who may encounter such patients with unique facial features. This study shows that pharyngeal flap operation can successfully correct the velopharyngeal insufficiency in Kabuki syndrome and post operative speech therapy plays a role in reinforcing surgical result.
Abnormalities, Multiple ; Dermatoglyphics ; Face ; Hematologic Diseases ; Humans ; Intellectual Disability ; Japan ; Reference Values ; Speech Therapy ; Velopharyngeal Insufficiency ; Vestibular Diseases

Abnormalities, Multiple ; diagnosis ; pathology ; physiopathology ; Branchio-Oto-Renal Syndrome ; diagnosis ; pathology ; physiopathology ; therapy ; Child ; Deafness ; etiology ; physiopathology ; Diagnosis, Differential ; Ear ; abnormalities ; Female ; Humans ; Kidney ; abnormalities ; Renal Insufficiency ; etiology ; physiopathology ; therapy

OBJECTIVETo examine the effect of pre-surgical orthodontics on the outcome of the secondary alveolar bone grafting in the patients with complete cleft lip and palate.

METHODSSixteen complete cleft lip and palate patients (9 males and 7 females) with collapsed upper arch or severe mal-positioned upper incisors were selected. The cleft was not easily grafted because of the poor access. The total cleft sites were 22 (10 patients with UCLP and 6 patients with BCLP). The age range of the patients was from 8 to 22 years. Pre-surgical orthodontic treatment was mainly to expand the collapsed upper arch and correct the mal-positioned upper incisors. After the secondary alveolar bone grafting, the patients were followed up and anterior occlusal radiograph/intraoral panograph were taken regularly. The observation period was from 6 months to 4 years. Bergland criteria were used to evaluate the interdental septal height.

RESULTSUpper arch expansion and the correction of the mal-positioned upper incisors done by the orthodontic treatment made the bone grafting procedure easier. The clinically successful rate reached 86%.

CONCLUSIONThe severe upper arch collapse and mal-positioned upper incisors in the patients with complete cleft lip and palate should be corrected orthodontically before the secondary alveolar bone grafting.

Abnormalities, Multiple ; surgery ; therapy ; Adolescent ; Adult ; Alveolar Process ; abnormalities ; surgery ; Bone Transplantation ; Child ; Cleft Lip ; complications ; surgery ; Cleft Palate ; complications ; surgery ; Female ; Humans ; Male ; Malocclusion ; complications ; surgery ; therapy ; Orthodontic Appliances ; Orthodontics, Corrective

A full-term female infant was admitted at 5 hours after birth due to heart malformations found during the fetal period and cyanosis once after birth. Mmultiple malformations of eyes, face, limbs, and heart were noted. The whole-exome sequencing revealed a pathogenic heterozygous mutation, c.2428C>T(p.Arg810^*), in the BCOR gene. The infant was then diagnosed with oculo-facio-cardio-dental syndrome. He received assisted ventilation to improve oxygenation and nutritional support during hospitalization. Right ventricular double outlet correction was performed 1 month after birth. Ocular lesions were followed up and scheduled for elective surgery. The possibility of oculo-facio-cardio-dental syndrome should be considered for neonates with multiple malformations of eyes, face, and heart, and genetic testing should be performed as early as possible to confirm the diagnosis; meanwhile, active ophthalmic and cardiovascular symptomatic treatment should be given to improve the prognosis.
Female ; Humans ; Infant ; Infant, Newborn ; Male ; Abnormalities, Multiple/therapy* ; Cataract/genetics* ; Cyanosis ; Proto-Oncogene Proteins ; Repressor Proteins/genetics* ; Heart Defects, Congenital/genetics*

Abnormalities, Multiple ; genetics ; pathology ; Child, Preschool ; Chromosome Aberrations ; Diagnosis, Differential ; Diarrhea ; diagnosis ; etiology ; therapy ; Exocrine Pancreatic Insufficiency ; complications ; Fever ; diagnosis ; etiology ; Fingers ; abnormalities ; Humans ; Male ; Pancreatic Diseases ; etiology ; Syndrome

Abnormalities, Multiple ; genetics ; Acidosis, Renal Tubular ; genetics ; pathology ; therapy ; Arthrogryposis ; genetics ; pathology ; therapy ; Biopsy ; Carrier Proteins ; genetics ; Cholestasis ; genetics ; pathology ; therapy ; DNA Mutational Analysis ; Humans ; Infant, Newborn ; Mutation ; Syndrome ; Vesicular Transport Proteins ; genetics