• Clinical and Experimental Pediatrics
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• v.46 no.8
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• pp.831-835
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• 2003

Holoprosencephaly of unknown definite causes, has been associated with several chromosome abnormalities involving the autosomes and the sex chromosomes. The most commonly reported associations include dup(3p), del(7q), deletions of chromosome 13, trisomy 13, trisomy 18, and triploidy. In previously reported cases in Korea, none were associated with chromosome 21 anomalies. In conclusion, we reported the first case of holoprosencephaly(semilobar type) associated with pure monosomy 21. We experienced a semilobar type holoprosencephaly with monosomy 21 in a neonate who had multiple congenital anomalies, including an abnormal face, a small thorax with widely spaced hypoplastic nipples and nail hypoplasia, lung hypoplasia with severe scoliosis and cardiac abnormalities. Chromosomal analysis revealed a 45, XY, -21.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.48 no.4
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• pp.232-236
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• 2022

A ranula is a pseudocyst that originates from the sublingual gland after trauma. Acute cases of ranulas that progress rapidly and cause respiratory distress are rare. Holoprosencephaly is a complex brain malformation caused by incomplete cleavage of the prosencephalon. Children with holoprosencephaly may experience upper airway obstruction due to the associated dentoalveolar malformations and oromotor dysfunctions. We present the case of an eight-year-old female patient with holoprosencephaly and a plunging ranula that manifested as an acute course due to difficult airway management. She required gastrostomy for oromotor dysfunctions related to feeding and swallowing and difficulty managing oral secretions. The sublingual gland and ranula were removed under general anesthesia. Postoperatively, urgent reintubation and close monitoring in the intensive care unit were required due to upper airway obstruction. We successfully managed the patient with close cooperation of a pediatrician and an anesthetist, and no recurrence was observed at the one-year follow-up. A ranula can be caused by trauma to the floor of the mouth in association with lingually inclined mandibular teeth, a type of dentoalveolar compensation seen in maxillary hypoplasia associated with holoprosencephaly. Careful consideration is needed in such cases since airway management can be difficult due to postoperative swelling and oromotor dysfunctions.

• Proceedings of The Korean Cleft Lip And Palate Association
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• 1997.06a
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• pp.43-43
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• 1997

• Archives of Plastic Surgery
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• v.34 no.4
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• pp.528-530
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• 2007

Purpose: Holoprosencephaly(HPE) is a rare developmental defect due to incomplete cleavages of the prosencephalon during the third week of fetal development. Chromosomal anomalies, genetic syndrome, teratogen, or genetic disorder of non-syndromic HPE are usually accepted as etiology. The consequences of prechordal mesoderm defect are varying degrees of deficit of midline facial development, especially the median nasal process(premaxilla), and incomplete morphogenesis of the forebrain. We experienced a case of lobar HPE with complete cleft lip and palate. Methods: A female newborn infant was born at $38^{+6}$ weeks' gestational age via NSVD. The infant's birth weight was 3.6 kg, height 52 cm, and head circumference 32.5 cm, showing microcephaly, flat nose, median complete cleft lip & palate, and hypotelorism, along with defects of midfacial development including losses of premaxilla, philtrum, nasal septum, and columella. Results: There were no specific findings noted from the head and neck X-ray and tests for endocrine and metabolic disorders, but clinical characteristics of midface and dysgenesis corpus callosum on brain MRI were seen, so that this case was diagnosed with HPE. Conclusion: HPE is divided into three categories of alobar, semilobar, and lobar prosencephaly according to the degree of cerebral hemisphere separation. Assesment of patient's brain abnormality and malformation is essential in determining the extent and benefit of surgical intervention. This case was included in the lobar type HPE which shows relatively good prognosis compared with other types and reconstruction of median complete cleft lip & palate and midfacial defects will be performed.

• Journal of the korean academy of Pediatric Dentistry
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• v.34 no.4
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• pp.672-678
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• 2007

Anatomic abnormalities of teeth development include the presence of a single maxillary central incisor at midline instead of two central incisors. The incidence of cases with a single maxillary central incisor is approximately 1 in every 50,000 live births. single median maxillary central incisor(SMMCI) may be a integral manifestation of any one of a number of syndromes. It has been reported an association with several midline disorders which have varied in severity. A SMMCI has also been reported as an isolated finding. But in some cases, it has been considered as an incomplete expression of autosomal dominant holoprosencephaly. So any patient who appears for treatment with a SMMCI should be referred for a detailed medical examination to exclude other associated systemic abnormalities and for mutation analysis to facilitate correct diagnosis and the provision of appropriate genetic counseling. Early orthodontic treatment is needed to minimalize emotional trauma of child. This case report was about three patients with a SMMCI as isolated finding. The purpose of these case reports was to present cases of single maxillary central incisor not associated with other disorders.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.2 no.1
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• pp.104-108
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• 1999

Currarino triad is a hereditary condition diagnosed when three abnormalities are noted: (1) an anorectal malformation; (2) an anterior sacral defect and (3) a presacral mass. We experienced 3 cases of Currarino triad with severe constipation. All cases had presacral mass and sacral bony defect. One case had rectovaginal fistula, other one case had holoprosencephaly. Presacral masses were lipomeningomyelocele and epidermoid or dermoid cyst. We report three cases of Currarino triad with brief review of the related literature.

• Toxicological Research
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• v.17
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• pp.11-16
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• 2001

The development of the central nervous system is a continuous process during the embryonic and fetal periods. For a better understanding of congenital anomalies of central nervous system, three major events of normal development, i.e., neurulation (3 to 4 weeks), brain vesicle formation (4 to 7 weeks) and mantle formation (over 8 weeks) should be kept in mind. The first category of anomalies is neural tube defect. Neural tube defects encompass all the anomalies arise in completion of neurulation. The second category of central nervous system anomalies is disorders of brain vesicle formation. This is anomaly that applies for "the face predicts the brain". Holoprosencephaly covers a spectrum of anomalies of intracranial and midfacial development which result from incomplete development and septation of midline structures within the forebrain or prosencephalon. The last category of central nervous system malformation is disorders involving the process of mantle formation. In the human, neurons are generated in two bursts, the first from 8 to 10 weeks and next from 12 to 14 weeks. By 16 weeks, most of the neurons have been generated and have started their migration into the cortex. Mechanism of migration disorders are multifactorial. Abnormal migration into the cortex, abnormal neurons, faulty neural growth within the cortex, unstable pial-glial border, degeneration of neurons, neural death by exogenous factors are some of the proposed mechanism. Agyria-pachygyria are characterized by a four-layerd cortex. Polymicrogyria is gyri that are too numerous and too small, and is morphologically heterogeneous. Cortical dysplasia is characterized by the presence Q[ abnormal neurons and glia arranged abnormally in focal areas of the cerebral cortex. Neuroglial malformative lesions associated with medically intractable epilepsy are hamartia or hamartoma, focal cortical dysplasia and microdysgenesis.ysgenesis.

• Clinical and Experimental Reproductive Medicine
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• v.25 no.3
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• pp.323-329
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• 1998

The safety of ICSI as a novel procedure of assisted fertilization may be assessed by the health of the baby born. In order to evaluate the safety of ICSI, perinatal outcome and congenital anomaly of the babies born after ICSI were compared with those of babies born after IVF (control group). We analysed the clinical data from the obstetric and pediatric records, including the information obtained through telephone. The results are as follows; Mean gestational age $({\pm}SEM)$ and birth weight in singleton pregnancy were $38.8{\pm}1.9$ weeks and $3209.7{\pm}501.9gm$ in IVF group, $39.0{\pm}2.2$ weeks and $3289.9{\pm}479.5gm$ in ICSI group, respectively. Mean gestational age and birth weight in twins were $36.8{\pm}2.1$ weeks and $2512.8{\pm}468.0gm$ in IVF group, $36.5{\pm}2.8$ weeks and $2492.7{\pm}537.1gm$ in ICSI group. In IVF group, perinatal mortality rates were 8.5 in singletons and 56.6 in twins; for the ICSI singletons and ICSI twins, the perinatal mortality rates were 11.6 and 49.0, respectively. The incidence of congenital malformations was 3.6% (8/224) in IVF group and 2.1% (4/188) in ICSI group, there was no statistical difference (p>0.05, Fisher's exact test). The incidence of major congenital anomalies was 0.9% (2/224; pulmonary artery hypoplasia, renal cystic dysplasia) in IVF group and 1.1% (2/188; holoprosencephaly, Cri du chat syndrome) in ICSI groups (p>0.05, Fisher's exact test). Similarly, there was no significant difference in incidence of minor congenital anormalies 2.7% (6/224) in IVF group and 1.1% (2/188) in ICSI group respectively (p>0.05, Fisher's exact test). In conclusion, there was no difference in the perinatal outcome and the incidence of congenital anomalies between the babies born after ICSI and those after conventional IVF.