Hypomelanosis of Ito (HI) is a neurocutaneous disorder, also known as incontinentia pigmenti achromians. HI has been associated with chromosomal abnormalities, especially mosaicism. Herein, we report a case of HI with multiple congenital anomalies. A 2-month-old girl presented with multiple linear and whorling hypopigmentation on the face, trunk, and both extremities and patch alopecia on the scalp. Moreover, she had conical teeth, aniridia of the both eyes, and multiple musculoskeletal problems, including syndactyly and coccyx deviation. Cytogenetic analysis on peripheral blood was normal 46, XX, and no mutation was found in IKBKG gene test.
Alopecia ; Aniridia ; Chromosome Aberrations ; Coccyx ; Cytogenetic Analysis ; Extremities ; Female ; Humans ; Hypopigmentation ; Infant ; Karyotype ; Mosaicism ; Neurocutaneous Syndromes ; Pigmentation Disorders ; Scalp ; Syndactyly ; Tooth

No abstract available.
Hand ; Syndactyly ; Upper Extremity

OBJECTIVE: To explore the genetic basis for a child with developmental delay and congenital syndactyly. METHODS: G-banding chromosomal karyotyping and chromosomal microarray analysis (CMA) were performed on peripheral blood sample from the child. RESULTS: The child was ascertained as 46, XY, r(18)[52]/45,XY,?18[3]. A 18q21.32-q23 deletion was identified by CMA with a size of 19.85 Mb, which has encompassed 99 genes including CTDP1, TXNL4A, TSHZ1, PIGN, RTTN, TNFRSF11A, KDSR and CYB5A. CONCLUSION Clinical phenotype of the patient with ring chromosome 18 is associated with the size of the euchromatin loss and involved genes. As a useful complement to conventional karyotyping, CMA has provided an powerful tool for delineating complex chromosomal aberrations.
Child ; Chromosome Aberrations ; Chromosomes, Human, Pair 18 ; genetics ; Cytogenetics ; Developmental Disabilities ; genetics ; Humans ; Karyotyping ; Ring Chromosomes ; Syndactyly ; genetics

Apert syndrome is a rare genetic disorder characterized by malformations of the skull, face, hands, and feet. We report a case of severe hyperhidrosis in a 13-month-old female infant with Apert syndrome who was born with craniosynostosis, midface hypoplasia, and syndactyly of both hands. She had a history of excessive sweating since birth and this was confirmed using the iodine-starch test. Hyperhidrosis was first reported as a key cutaneous manifestation of Apert syndrome in 1993. However, the main focus in the field of dermatology is on antibiotic-refractory acne, which serves as another cutaneous hallmark of the disease. This is the first report in the Korean literature that describes hyperhidrosis in Apert syndrome. We highlight the presentation of hyperhidrosis as a key cutaneous manifestation in Apert syndrome.
Acne Vulgaris ; Acrocephalosyndactylia ; Craniosynostoses ; Dermatology ; Female ; Foot ; Hand ; Humans ; Hyperhidrosis ; Infant ; Parturition ; Skull ; Sweat ; Sweating ; Syndactyly

OBJECTIVETo explore the genetic basis for a patient with oculodentodigital dysplasia.

METHODSGenomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole-exome sequencing was carried out for the trio family. Suspected mutation was verified by Sanger sequencing.

RESULTSA de novo c.412G>A mutation of the GJA1 gene was identified in the patient, which was validated by Sanger sequencing.

CONCLUSIONThe c.412G>A mutation of the GJA1 gene probably underlies the disease in the patient.

Adult ; Connexin 43 ; genetics ; Craniofacial Abnormalities ; genetics ; Exome ; Eye Abnormalities ; genetics ; Foot Deformities, Congenital ; genetics ; Humans ; Male ; Mutation ; Sequence Analysis, DNA ; Syndactyly ; genetics ; Tooth Abnormalities ; genetics

BACKGROUND: A 9-year-old male showed severe defects in midface structures, which resulted in maxillary hypoplasia, ocular hypertelorism, relative mandibular prognathism, and syndactyly. He had been diagnosed as having Apert syndrome and received a surgery of frontal calvaria distraction osteotomy to treat the steep forehead at 6 months old, and a surgery of digital separation to treat severe syndactyly of both hands at 6 years old. Nevertheless, he still showed a turribrachycephalic cranial profile with proptosis, a horizontal groove above supraorbital ridge, and a short nose with bulbous tip. METHODS: Fundamental aberrant growth may be associated with the cranial base structure in radiological observation. RESULTS: The Apert syndrome patient had a shorter and thinner nasal septum in panthomogram, PA view, and Waters’ view; shorter zygomatico-maxillary width (83.5 mm) in Waters’ view; shorter length between the sella and nasion (63.7 mm) on cephalogram; and bigger zygomatic axis angle of the cranial base (118.2°) in basal cranial view than a normal 9-year-old male (94.8 mm, 72.5 mm, 98.1°, respectively). On the other hand, the Apert syndrome patient showed interdigitating calcification of coronal suture similar to that of a normal 30-year-old male in a skull PA view. CONCLUSION: Taken together, the Apert syndrome patient, 9 years old, showed retarded growth of the anterior cranial base affecting severe midface hypoplasia, which resulted in a hypoplastic nasal septum axis, retruded zygomatic axes, and retarded growth of the maxilla and palate even after frontal calvaria distraction osteotomy 8 years ago. Therefore, it was suggested that the severe midface hypoplasia and dysostotic facial profile of the present Apert syndrome case are closely relevant to the aberrant growth of the anterior cranial base supporting the whole oro-facial and forebrain development.
Acrocephalosyndactylia ; Adult ; Child ; Exophthalmos ; Forehead ; Hand ; Humans ; Hypertelorism ; Male ; Maxilla ; Nasal Septum ; Nose ; Osteotomy ; Palate ; Prognathism ; Prosencephalon ; Skull ; Skull Base ; Sutures ; Syndactyly

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).
Congenital Abnormalities ; Foot* ; Head ; Humans ; Magnetic Resonance Imaging ; Metatarsal Bones ; Polydactyly* ; Radiography ; Syndactyly

Although it is a rare developmental malformation, van der Woude syndrome is the most common form of syndromic orofacial clefting, accounting for approximately 2% of all cleft cases. The lower lip pits with or without a cleft lip or palate is characteristic of the syndrome. Findings, such as hypodontia, limb deformities, popliteal webs, ankylogossia, ankyloblepheron, and genitourinary and cardiovascular abnormalities, are rarely associated with the syndrome. This paper reports a rare case of van der Woude syndrome in a 10-year-old male patient with a single median lower lip pit and a repaired bilateral cleft lip and cleft palate that were associated with microstomia, hypodontia, and clubbing of the left foot with syndactyly of the second to fifth lesser toes of the same foot.
Anodontia ; Cardiovascular Abnormalities ; Child ; Cleft Lip ; Cleft Palate ; Congenital Abnormalities* ; Extremities* ; Foot ; Humans ; Lip* ; Male ; Microstomia ; Palate ; Syndactyly ; Toes

Focal dermal hypoplasia, caused by mutations in PORCN, is an X-linked ectodermal dysplasia, also known as Goltz syndrome. Only seven cases of unilateral or almost unilateral focal dermal hypoplasia have been reported in the English literature and there have been no previously reported cases in the Republic of Korea. A 19-year-old female presented with scalp defects, skin lesions on the right leg and the right trunk, and syndactyly of the right fourth and fifth toes. Cutaneous examination revealed multiple atrophic plaques and a brown and yellow mass with fat herniation and telangiectasia that was mostly located on the lower right leg. She had syndactyly on the right foot and the scalp lesion appeared to be an atrophic, membranous, fibrotic alopecic scar. A biopsy of the calf revealed upper dermal extension of fat cells, dermal atrophy, and loss of dermal collagen. A diagnosis of almost unilateral focal dermal hypoplasia was made on the basis of physical and histologic findings. Henceforth, the patient was referred to a plastic surgeon and an orthopedics department to repair her syndactyly.
Adipocytes ; Atrophy ; Biopsy ; Cicatrix ; Collagen ; Diagnosis ; Ectodermal Dysplasia ; Female ; Focal Dermal Hypoplasia* ; Foot ; Humans ; Leg ; Orthopedics ; Plastics ; Republic of Korea ; Scalp ; Skin ; Syndactyly ; Telangiectasis ; Toes ; Young Adult

Focal dermal hypoplasia, caused by mutations in PORCN, is an X-linked ectodermal dysplasia, also known as Goltz syndrome. Only seven cases of unilateral or almost unilateral focal dermal hypoplasia have been reported in the English literature and there have been no previously reported cases in the Republic of Korea. A 19-year-old female presented with scalp defects, skin lesions on the right leg and the right trunk, and syndactyly of the right fourth and fifth toes. Cutaneous examination revealed multiple atrophic plaques and a brown and yellow mass with fat herniation and telangiectasia that was mostly located on the lower right leg. She had syndactyly on the right foot and the scalp lesion appeared to be an atrophic, membranous, fibrotic alopecic scar. A biopsy of the calf revealed upper dermal extension of fat cells, dermal atrophy, and loss of dermal collagen. A diagnosis of almost unilateral focal dermal hypoplasia was made on the basis of physical and histologic findings. Henceforth, the patient was referred to a plastic surgeon and an orthopedics department to repair her syndactyly.
Adipocytes ; Atrophy ; Biopsy ; Cicatrix ; Collagen ; Diagnosis ; Ectodermal Dysplasia ; Female ; Focal Dermal Hypoplasia* ; Foot ; Humans ; Leg ; Orthopedics ; Plastics ; Republic of Korea ; Scalp ; Skin ; Syndactyly ; Telangiectasis ; Toes ; Young Adult