• Journal of Genetic Medicine
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• v.11 no.1
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• pp.27-30
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• 2014

Brachydactyly type C is a limb malformation characterized by shortening of the second, third, and fifth middle and/or proximal phalanges, but it has variable phenotypic expressivity. Mutations in the growth differentiation factor-5 (GDF5) gene cause isolated brachydactyly C. Herein, we report a familial case with isolated brachydactyly type C characterized by brachymesophalangy of both second and third digits, with a GDF5 missense mutation, and discuss the phenotypic variability of the condition. Identifying more cases with genetic confirmation will help elucidate the clinical and genetic characteristics of this condition in the Korean population.

• Clinics in Shoulder and Elbow
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• v.13 no.1
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• pp.123-126
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• 2010

Purpose: Poland syndrome is rare disease which is characterized by absence of unilateral pertoralis major muscle accompanied by ipsilateral syndactyly or brachydactyly, which was described first by Alfred Poland in 1841. Materials and Methods: We performed the physical examination, laboratory test and radiologic evaluation to 18 year old male, who complaint asymmetry of right anterior chest. Results: We diagnosed the Poland syndrome due to absence of right pectoralis major muscle and brachydactyly of right hand. Conclusion: Current authors report a patient who had hypopalsia of pectoralis muscles, which needed differential diagnosis with pectoralis major rupture.

• Clinical and Experimental Pediatrics
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• v.50 no.3
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• pp.315-318
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• 2007

This report describes the long-term follow-up of a 10-year-old female patient with Joubert syndrome with short stature and brachydactyly. She presented with hyperpnea alternated with hypopnea, uncontrolled jerking eye movements, and hypotonia during early infancy. She was diagnosed with Joubert syndrome based on clinical symptoms and typical MRI findings at 5 months of age. Abnormal ventilation and eye movements disappeared at around 4 years of age. Head circumference kept within normal range for her age, but her height and weight growth were markedly retarded. Simple X-ray showed an enlarged skull with increased digital markings, hypoplasia of facial bones, and abnormal enchondral bone formations in hands and feet. This article is the first report of Joubert syndrome with peripheral dysostosis.

• Journal of Genetic Medicine
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• v.15 no.2
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• pp.97-101
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• 2018

Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male patient visited our neurologic department with chronic fatigue. He presented with short stature, sparse hair, pear-shaped nose, and brachydactyly. Radiologic study showed short metacarpals, metatarsals with cone-shaped epiphyses, hypoplastic femur and hip joint. Panel sequencing for OMIM (Online Mendelian Inheritance in Man) listed genes revealed a de novo heterozygous frameshift mutation of c.1801_1802delGA (p.Arg601Lysfs*3) of exon 4 of the TRPS1 gene. The diagnosis of TRPS can be challenging due to the rarity and variable phenotype of the disease, clinicians should be aware of its characteristic clinical features that will lead a higher rate of diagnosis.

• Korean Journal of Veterinary Research
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• v.41 no.1
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• pp.7-11
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• 2001

The abnormal female fowl (Arbor Acres broiler) of 40-day-old, which was polymelia with polydactyly was observed macroscopically and radiographically. An extra pelvic limb was attached at the left pelvic region. The extra pelvic limb consisted of an underdeveloped and malformed Os coxae like bone, femur like bone, tibia and fibula like bones, tarsal and metatarsal like bones, and five digits. The tarsal bones of two normal pelvic limbs and one extra pelvic limb were not fused with tibia and metatarsal bones respectively. The metatarsus of extra pelvic limb consisted of a single bone derived from several components. In a case of normal, first metatarsal bone remains independent. However in this case. all of metatarsal bones were fused. The extra pelvic limb was polydactyly. The digits consisted of the first and extra digit of three. the second and third of four. and the fourth of five phalanges. In each toe the last phalanx was pointed and formed the claw. The first and the second digits were polyphalangia [hyperphalangia]. The extra digit was microdactylia and brachydactyly.

• Clinical and Experimental Pediatrics
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• v.57 no.5
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• pp.240-244
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• 2014

Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-old boy presented with clinical and laboratory abnormalities including hypocalcemia, hyperphosphatemia, PTH resistance, multihormone resistance and AHO (round face, short stature, obesity, brachydactyly and osteoma cutis) which were typical of PHP Ia. He had a history of repeated convulsive episodes that started from the age of 2 months. A cranial computed tomography scan showed bilateral calcifications in the basal ganglia and his intelligence quotient testing indicated mild mental retardation. Family history revealed that the patient's maternal relatives, including his grandmother and 2 of his mother's siblings, had features suggestive of AHO. Sequencing of the GNAS gene of the patient identified a heterozygous nonsense mutation within exon 11 (c.637 C>T). The C>T transversion results in an amino acid substitution from Gln to stop codon at codon 213 ($p.Gln213^*$). To our knowledge, this is a novel mutation in GNAS.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.21 no.1
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• pp.7-14
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• 2021

Purpose: Pseudohypoparathyroidism (PHP) is caused by genetic and epigenetic alteration in the GNAS locus, and characterized by the resistance to multiple hormones and the Albright's hereditary osteodystrophy (AHO) phenotype. This study investigated the phenotypic characteristics and molecular features of PHP. Methods: Eight patients who diagnosed as PHP were enrolled at Pusan National University Children's hospital and clinical features, biochemical and genetic findings were retrospectively reviewed. Results: Of a total of 8 patients, 5 were diagnosed with PHP1a, and 3 were diagnosed with PHP1b. Patients with PHP1a had three different mutations in the GNAS gene, and patients with PHPIb had imprinting defect in differentially methylated regions (DMRs) of the GNAS locus. Two novel GNAS variants were identified in patients with PHP1a, including c.313-2A>T and c.1094G>A. All patients with PHP1a displayed AHO features; short stature (80%), brachydactyly (80%), a round face (80%), obesity (40%), heterotopic ossification (60%), and intellectual disability (60%), whereas only one patient (33.3%) with PHP1b showed AHO feature such as a round face. When phenotypic features between PHP1a and PHP1b patients were compared, patients with PHP1b showed a tendency of higher current height standard deviation scores (SDS) compared to patients with PHP1a, (-3.2±2.1 vs.-1.1±0.8; P=0.06) Conclusions: This study summarizes the phenotypic and genetic features of the PHP patients. Although we found considerable clinical overlap between PHP1a and PHP1b, further long-term follow-up is needed to evaluate the growth and development of children with PHP, as well as the effects of end-organ resistances to endocrine hormones.