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*

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

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

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

OBJECTIVETo investigate the clinical characteristics, diagnosis and therapy of Keutel syndrome, and thereby to minimize the misdiagnosis.

METHODData of a case of Keutel syndrome diagnosed at the Provincial Hospital Affiliated to Shandong University were analyzed and related literature were reviewed.

RESULTAn 8-month-26-day-old boy was presented with inspiratory and expiratory stridor and wheezing after movement on lung auscultation. His craniofacial appearance was characterized by midfacial hypoplasia with a broad depressed nasal bridge. The nose was small and flat. A grade 2-3/6 systolic murmur was heard between the second and third ribs at left edge of the sternum. The end phalanges of his fingers were thickened. Chest radiograph showed tracheobronchial cartilage calcification and tracheobronchial stenosis. Echocardiographic examination revealed the right pulmonary stenosis. With endoscopic surgery, antiobstructive and antibiotic therapy clinical symptoms were improved. Three weeks later he died of lung reinfection after he was discharged from our hospital. English literature search with "Keutel syndrome" as the key word at "PubMed" showed 22 articles covering 26 patients, and the clinical symptoms were hearing loss (91%), persistent respiratory symptoms (68%), recurrent otitis media/sinusitis (67%), growth development delay (52%) in turn, and signs were brachytelephalangism (100%), low nasal bridge (95%), midfacial hypoplasia (93%), cardiac murmur (69%), and auxiliary examinations showed abnormal cartilage calcification (100%), pulmonary arterial stenosis (72%), tracheobronchial stenosis (50%).

CONCLUSIONThe diagnosis of Keutel syndrome should be considered in patients with brachytelephalangism, abnormal cartilage calcification, peripheral pulmonary stenosis, and midfacial hypoplasia. Tracheal stenosis was main clinical manifestation in part of patients.

Abnormalities, Multiple ; diagnosis ; diagnostic imaging ; therapy ; Bone and Bones ; diagnostic imaging ; Calcinosis ; diagnosis ; diagnostic imaging ; therapy ; Cartilage ; diagnostic imaging ; Cartilage Diseases ; diagnosis ; diagnostic imaging ; therapy ; Diagnosis, Differential ; Hand Deformities, Congenital ; diagnosis ; diagnostic imaging ; therapy ; Humans ; Infant ; Male ; Pulmonary Valve Stenosis ; diagnosis ; diagnostic imaging ; therapy ; Radiography, Thoracic ; Retrospective Studies ; Tomography, X-Ray Computed ; Tracheal Stenosis ; diagnosis ; diagnostic imaging

Terminal or interstitial deletions of Xp (Xp22.2-->Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill dyschondrosteosis (SHOX), chondrodysplasia punctata (CDPX1), mental retardation (NLGN4), ichthyosis (STS), Kallmann syndrome (KAL1), and ocular albinism (GPR143). Here we present a case of a 13.5 yr old boy and sister with a same terminal deletion of Xp22.2 resulting in the absence of genes from the telomere of Xp to GPR143 of Xp22. The boy manifested the findings of all of the disorders mentioned above. We began a testosterone enanthate monthly replacement therapy. His sister, 11 yr old, manifested only Leri-Weill dyschondrosteosis, and had engaged in growth hormone therapy for 3 yr. To the best of our knowledge, this is the first report of a male with a 9.7 Mb terminal Xp deletion including the OA1 locus in Korea.
Abnormalities, Multiple/*genetics ; Adolescent ; Child ; Chromosome Deletion ; *Chromosomes, Human, X ; Eye Proteins/genetics ; Female ; Genetic Loci ; Growth Hormone/therapeutic use ; Humans ; Male ; Membrane Glycoproteins/genetics ; Telomere/genetics ; WAGR Syndrome/*diagnosis/genetics/therapy

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

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

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

OBJECTIVE: To access the possibility, methods and efficacy of simultaneous transcatheter therapy for ventricular septal defect ( VSD ) combined with atrial septal defect (ASD). METHODS: In 68 patients with VSD, four patients ranging from 3 to 24 years old were combined with ASD. The diameters of perimembranous VSD were 2 approximately 10.5 mm, and the diameters of secundum ASD were 4.6 approximately 7 mm under the echocardiography before the operation. Another 4 patients with VSD occluded by left ventriculography: 3 patients were occluded by VSD occluder first, and then occluded by ASD occuder. The other was only occluded by VSD occluder. RESULTS: All VSD was treated successfully at one time in 4 patients. The diameters of VSD occluder were 4, 8, 10, and 16 mm. ASD was occluded successfully at one time in 3 patients. The diameters of ASD occluder were 8, 10, and 10 mm. The successful rate of the operation was 100%. No complication occurred in the operation and follow-up. CONCLUSION Simultaneous transcatheter closure for VSD combined with ASD is a safe, feasible and effective therapy.
Abnormalities, Multiple ; therapy ; Adolescent ; Adult ; Balloon Occlusion ; instrumentation ; methods ; Cardiac Catheterization ; methods ; Child ; Child, Preschool ; Echocardiography ; Female ; Heart Septal Defects, Atrial ; therapy ; Heart Septal Defects, Ventricular ; therapy ; Humans ; Male ; Treatment Outcome