• Journal of the Korean Orthopaedic Association
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• v.53 no.6
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• pp.530-539
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• 2018

Purpose: We aimed to evaluate the magnetic resonance imaging (MRI) findings of congenital postaxial polydactyly of the foot. Materials and Methods: Three-hundred and forty-seven feet of 288 patients who underwent congenital postaxial polydactyly or polysyndactyly correction were divided into five subtypes according to the radiographic shapes of deformity origins (widened metatarsal head, bifid, fused duplicated, incompletely duplicated, or completely duplicated). MRIs were assessed to determine whether they unrevealed areas were fused or separated. MRI was also used to assess cases with radiographic phalangeal aplasia. Results: Huge variations were noted in MRIs. Fusion or separation at the base or head between original and extra digits were observed, and MRI effectively depicted phalangeal aplastic areas. Conclusion: MRI evaluations of congenital postaxial polydactyly of the foot are useful for determining the anatomical statuses which were not visualized by plain radiography (level of evidence: 3).

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.136-138
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• 2008

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations which include dysplastic ears, hearing loss, preaxial polydactyly and/or triphalangeal thumbs, imperforate anus, renal anomalies, congenital heart defects, and mental retardation. However, hypothyroidism is not a common feature of TBS. There have been only three reported cases of TBS associated with hypothyroidism. We report the first case of TBS associated with hypothyroidism in Korea.

• Journal of Genetic Medicine
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• v.10 no.1
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• pp.57-61
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• 2013

Acromegaloid Facial Appearance syndrome is a very rare syndrome combining acromegaloid-like facial appearance, thickened lips and oral mucosa and acral enlargement. Progressive facial dysmorphism is characterized by a coarse facies, a long bulbous nose, high-arched eyebrows, and thickening of the lips, oral mucosa leading to exaggerated rugae and frenula, furrowed tongue and narrow palpebral fissures. We report a case of acromegaloid facial appearance syndrome in a 19-year-old male patient who presented with all the characteristic features of the syndrome along with previously unreported anomalies like dystrophic nails, postaxial polydactyly and incisal notching of teeth.

• Childhood Kidney Diseases
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• v.2 no.2
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• pp.200-203
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• 1998

The Laurence Moon-Bardet Biedl syndrome is characterized by obesity, mental retardation, visual impairment with retinitis pigmentosa, polydactyly, hypogonadism and renal manifestations. We experienced an 11 years old female with Laurence Moon-Baret Biedl syndrome associated chronic renal failure. She was diagnosed to have LMB syndrom according to the clinical manifestations of polydactyly on hands and feet, mental retardation, obesity, retinitis pigmentosa and chronic renal failure. She is on maintenance hemodialysis now.

• Imaging Science in Dentistry
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• v.41 no.4
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• pp.167-170
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• 2011

Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congenital heart malformation. There were very rare reports of this syndrome in dentistry. The present case focuses on the striking and constant oral findings of these patients, which are the main diagnostic features of this syndrome. Since the oral manifestations affect the esthetic, speech, and jaw growth of the child, the dentists have an important role to play in proper management of such case.

• Journal of Korean Foot and Ankle Society
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• v.16 no.3
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• pp.148-155
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• 2012

There are many different type of congenital toe anomalies such as syndactyly, polydactyly which are more common, and less frequently macrodactyly and curly toe. Congenital anomaly of hand can decrease the hand function and easy to be visualized, so the early treatment of anomaly is natural and recommended. On the other hand, Congenital anomaly of foot rarely decrease the foot function and was hidden in the shoe, so treatment of anomaly was delayed frequently. However, the surgery can be needed, as the foot getting grown-up, discomfort of shoe fitting or intractable plantar keratosis due to secondary deformation of foot can occur. A distinct feature and surgical consideration was compared with congenital anomaly of hand and it should be taken into account in the treatment of adult toe anomalies.

• Archives of Plastic Surgery
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• v.46 no.6
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• pp.610-611
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• 2019

• Neonatal Medicine
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• v.16 no.1
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• pp.89-93
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• 2009

Maternal diabetes is known to have teratogenic effects which increase the risk for congenital anomalies, such as caudal dysplasia, cardiac defects, hydronephrosis, and small left colon syndrome. Infants of diabetic mothers have a 10-fold higher frequency of anomalies in the central nervous system and a 5-fold higher frequency of congenital heart defects. However, jejunal atresia combined with multiple anomalies of the face, ears, and hands has rarely been reported. Herein we report a neonate born to a diabetic mother, who had hemifacial microsomia, displacement of the lacrimal ducts, polydactyly of the right hand, microtia of the right ear and proximal jejunal atresia presenting as bile regurgitation on the 1st day of life.

• Clinical and Experimental Pediatrics
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• v.57 no.6
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• pp.292-296
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• 2014

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac or genital anomalies, moderate to severe mental retardation, and growth retardation. Using fluorescent in situ hybridization (FISH) analysis to map precisely the deletion, we present a case of chromosome 1q44 deletion with craniofacial characteristics, multiple congenital anomalies, and growth and psychomotor retardation. In comparison with other reported cases of 1q43-44 deletion, the subject does not show hydrocephalus, seizure, syn- or polydactyly of hands, and a urogenital anomaly. However, an arachnoid cyst, pinpoint dimple on the midline of the forehead, a right-sided supernumerary nipple and auricular pit, polydactyly of the right foot, adducted thumb, and flexion restriction of the proximal interphalangeal joint with a simian line in both hands were observed additionally.

• The Korean journal of internal medicine
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• v.39 no.1
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• pp.196-197
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• 2024