• Anatomy and Cell Biology
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• v.56 no.1
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• pp.145-149
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• 2023

Agenesis or congenital hypoplasia of skeletal muscles occurs infrequently but may occur with specific conditions such as Poland syndrome. The trapezius muscle can vary in the extent of its bony attachments or may have additional slips, however congenital absence or hypoplasia is extremely rare. There are only a few reports of partial or complete absence of the trapezius muscle. Two cases of bilateral absence of the trapezius were both in males and were accompanied by the absence of additional muscle in the pectoral girdle. Herein, we describe a case of a 56-year-old male cadaver with bilateral hypoplasia of the trapezius. The muscle was largely represented by atrophied muscle fibers with an abundance of fibrotic or fatty connective tissue. This subject had very minor hypoplasia of the left pectoralis major muscle, but the remaining muscles of the pectoral girdle were normal. The spinal accessory nerve terminated in the sternocleidomastoid muscle on both sides, failing to reach the trapezius. We interpret these findings to be consistent with a minor variant of Poland syndrome.

• Journal of Genetic Medicine
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• v.14 no.1
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• pp.27-30
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• 2017

Adrenal hypoplasia congenita (AHC) is a rare cause of adrenal insufficiency during neonatal period. Mutations in the gene coding for DAX1 cause X-linked adrenal hypoplasia. Most affected patients are shown to have salt wasting and hyperpigmentation on the skin during the neonatal period and require intensive medical care. In addition, it is usually associated with hypogonadotropic hypogonadism in adolescence. The DAX1 gene is expressed in the adrenal cortex, pituitary gland, hypothalamus, testis, and ovary. We report on a patient with genetically confirmed AHC whose initial clinical presentations were consistent with congenital adrenal hyperplasia. A point mutation in the DAX1 gene identified in this report resulted in a truncated DAX1 protein. Our patient was diagnosed with AHC.

• Archives of Craniofacial Surgery
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• v.20 no.4
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• pp.265-269
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• 2019

Congenital hypoplasia of the depressor anguli oris muscle is a rare cause of asymmetrical crying facies in newborns. The clinical manifestations range from mild to severe asymmetry and may persist up to adulthood. In the current case, the patient did not exhibit other congenital anomalies or paralysis of other branches of the facial nerve. This adult patient presented with severe asymmetrical lower lip deformity during full mouth opening since birth. A chromosomal study for the detection of 22q gene deletion yielded negative results. The electromyography findings of the lower lip were insignificant. Depressor labii inferioris muscle resection was not effective, but bidirectional (horizontal and vertical) fascia lata grafting improved the aesthetic appearance of the asymmetrical lower lip. The patient showed improved lower lip symmetry during full mouth opening at 1 year after the surgery. Therefore, the details of this rare case are reported herein.

• Journal of Korean Neurosurgical Society
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• v.41 no.5
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• pp.343-346
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• 2007

Hypoplasia of the internal carotid artery is a rare congenital anomaly. Agenesis, aplasia, and hypoplasia of the internal carotid artery [ICA] are frequently associated with cerebral aneurysms in the circle of Willis. Authors report two cases with congenital hypoplasia of the ICA accompanying with the aneurysms. Transfemoral cerebral angiography [TFCA] in one patient identified nonvisualization of the left ICA. Bilateral anterior cerebral artery [ACA] and middle cerebral artery [MCA] were supplied from the right ICA accompanying with two aneurysms at anterior communicating artery [AcoA] and A1 portion of the left ACA. TFCA in another patient demonstrated hypoplastic left ICA and left ACA filled from the right ICA accompanying with AcoA aneurysm. Left MCA was filled from basilar artery via posterior communicating artery [PcoA]. Skull base computed tomography [CT] in two patients showed hypoplastic carotid canal. Authors performed direct aneurysmal neck clipping. Follow up CT angiography [CTA] at one year after surgery did not show regrowth or new development of the aneurysm. In patients with hypoplastic ICA, neurosurgeons should be aware of the possibility of development of the aneurysms, presumably because of hemodynamic process. Direct aneurysmal neck clipping is a good treatment modality. After operation, regular CTA, magnetic resonance angiography [MRA] or TFCA is needed to find progressive lesion and to prevent cerebrovascular attack [CVA].

• Journal of Korean Neurosurgical Society
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• v.29 no.3
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• pp.402-406
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• 2000

The term 'craniovertebral junction' refers to the occipital bone that surrounds the foramen magnum and the atlas and the axis vertebrae. A wide variety of congenital, developmental, and acquired anomalies exist at the craniovertebral junction. The authors present a rare case of the congenital anomaly of the craniovertebral junction consisting of atlantal hypoplasia, atlantal assimilation, and basilar invagination in a 58-year-old male. An occiput-C2 arthrodesis was performed. The clinical and imaging features are described, and the embryology and etiology of this anomaly are discussed.

• Archives of Craniofacial Surgery
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• v.15 no.2
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• pp.94-97
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• 2014

Unilateral nostril hypoplasia is an extremely rare congenital malformation of unknown etiology, and only a few cases have been reported in literature. Owing to variability and complexity of the deformity, surgical correction of unilateral nostril hypoplasia represents one of the most significant reconstructive challenges to reconstructive plastic surgeons. We report a 7-year-old Vietnamese child with nasal and periocular deformity resembling a craniofacial cleft. Grossly, the right nostril was patent but with alar rim deformity, and the left nostril was not readily identifiable. A dystopic medial canthus was present on the left side as well. Closer inspection and palpation of the left side of nose revealed a patency through the soft tissue and underlying bony structure, Thus, a new alar rim were reconstructed with an irregularly shaped Z-plasty to create patency on the involved side. Simulatneously, a second Z-plasty was performed to address the medial canthal deformity. Postoperative appearance and function was sastisfactory at one-year follow up visit. In the treatment of patients with nostril hypoplasia, a careful preoperative physical examination is a prerequisite, and Z-plasty can be a valuable option for surgical correction.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.10 no.2
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• pp.101-105
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• 2014

Moebius syndrome is a rare, congenital neurological disease involving facial paralysis and limitation of eye movements. It results from maldevelopment of the sixth and seventh cranial nerves. Dental features of this syndrome include micrognathia, microstomia, tongue deformity, cleft palate, hypoplasia of the teeth, and congenital missing teeth. A 7-year-old female with Moebius syndrome was referred from a local dental clinic for caries treatment. She presented with facial paralysis and microstomia. Oral findings included multiple caries with enamel hypoplasia, congenital missing teeth, and tongue deformity. Dental treatments including restorative and preventive procedures were performed. Oral findings and management aspects of Moebius syndrome for this case are discussed. Early evaluation and multidisciplinary care are needed for children with Moebius syndrome.

• Journal of Chest Surgery
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• v.26 no.9
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• pp.730-734
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• 1993

Three neonates with congenital diaphragmatic eventration underwent intrathoracic operation had marked improvements in symptoms postoperatively. Two were one day of ages, one was 1 month of age, and they were all female and had other congenital abnormalities of lung hypoplasia, cleft palate, nasal polyps and neonatal hepatitis. The right diaphragm was more affected than left as 2:1. The repair for diaphragmatic eventration was performed successfully by plication of remnant diaphragm, and there were no complications postoperatively.

• Journal of Chest Surgery
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• v.22 no.4
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• pp.672-676
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• 1989

We experienced a case of congenital tricuspid stenosis. The patient was 5 years old boy. The 2D-echo 4 cardiac catheterization with cineangiogram revealed as Tricuspid Stenosis, associated with functioning patent foramen ovale & mild R.V hypoplasia. The lesion was successfully corrected by TV commissurotomy & closure of PFO. Postoperatively, moderate degree of tricuspid regurgitation was remained.

• Journal of Chest Surgery
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• v.20 no.4
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• pp.851-854
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• 1987

Congenital diaphragmatic hernia remains a disease with high neonatal mortality rate despite recent advance in neonatal intensive care. We experienced one case of the congenital diaphragmatic hernia with acute respiratory distress and left pulmonary hypoplasia in the neonate. The simple closure was performed through left paramedian approach after diagnosis. The postoperative course was uneventful except wound disruption. The patient was follow-up with good general condition.