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The Journal of Hand Surgery Apr 2011Kabuki make-up syndrome (KMS) is a multiple malformation/mental retardation syndrome that was first described in Japan but is now reported in many other ethnic groups.... (Review)
Review
Kabuki make-up syndrome (KMS) is a multiple malformation/mental retardation syndrome that was first described in Japan but is now reported in many other ethnic groups. Kabuki make-up syndrome is characterized by multiple congenital abnormalities: craniofacial, skeletal, and dermatoglyphic abnormalities; mental retardation; and short stature. Common hand anomalies associated with KMS include persistent fingertip pad, brachydactyly, clinodactyly, and lax joints. We report a patient with KMS who presented with cleft hand, a feature that has not yet been described in KMS, and describe the potential genetic cause.
Topics: Abnormalities, Multiple; Face; Female; Fingers; Follow-Up Studies; Hand Deformities, Congenital; Hematologic Diseases; Humans; Infant; Limb Deformities, Congenital; Radiography; Republic of Korea; Vestibular Diseases
PubMed: 21411242
DOI: 10.1016/j.jhsa.2010.12.033 -
Acta Chirurgica Hungarica 1999Pectus deformities and atypical costal anomalies are congenital thoracic wall defects that can cause a marked cosmetic defect with attendant psychological trauma and...
BACKGROUND
Pectus deformities and atypical costal anomalies are congenital thoracic wall defects that can cause a marked cosmetic defect with attendant psychological trauma and limited physical performance.
PATIENTS AND METHODS
We reviewed 43 patients with chest wall deformities, 24 (55.8%) were pectus excavatum, 13 (30.2%) pectus carinatum and 6 (14%) atypical costal anomalies, in the last sixteen years. There were nine female and 34 (79.1%) male patients. The mean age of the patients was 14.4 years (range, 5 to 23). Scoliosis (13.5%), Poland's syndrome (5.4%), Marfan's syndrome (5.4%), neurofibromatosis (2.7%), atrial septal defect (2.7%) and mitral valve prolapse (13.5%) were associated with pectus deformities. The modified Ravitch's technique was used in pectus cases. Concomitant surgery was performed in two patients with pectus carinatum.
RESULTS
The complications of pectus deformity repair were pneumothorax (24.3%), wound infection (8.1%), and local tissue necrosis (2.7%). There was no major recurrence, while minor recurrence rate was 10.8%. There was no mortality.
CONCLUSION
Timely surgical procedures for the treatment of pectus deformities result in an excellent cosmetic outcome and improve cardiorespiratory function, providing both physical and psychological benefits.
Topics: Adolescent; Adult; Child; Child, Preschool; Congenital Abnormalities; Female; Humans; Male; Postoperative Complications; Thoracic Surgical Procedures; Thorax
PubMed: 10439083
DOI: No ID Found -
The Journal of Spinal Cord Medicine 2008There are few reports of developmental or congenital cervical spinal deformities. Such cases may be mistaken for traumatically induced fractures, and additional...
BACKGROUND/OBJECTIVE
There are few reports of developmental or congenital cervical spinal deformities. Such cases may be mistaken for traumatically induced fractures, and additional treatment may ensue.
METHODS
A retrospective analysis was performed to identify patients with congenital cervical spine deformities. These patients were matched with a confirmed traumatic spinal fracture population with similar demographic features. Patients were analyzed for age, gender, imaging findings (plain roentgenograms including dynamic flexion and extension views, computed tomography scan, and MRI), neurologic status, and subjective complaints of pain.
RESULTS
Thirty-six individuals were included in the final analysis, 7 with congenital abnormalities and 29 with radiographically confirmed traumatic injuries. Patients with congenital abnormalities had significantly less soft-tissue swelling compared with the population with traumatic fractures (P < 0.001). Furthermore, those with congenital defects presented with lesser degrees of vertebral subluxation (0.29 mm vs 7.24 mm) (P < 0.0001) and without neurologic deficits (P < 0.0001).
CONCLUSIONS
Congenital abnormalities, though rare, can be mistaken for traumatic fractures of the spine. Physicians should note any evidence of soft-tissue swelling, neurologic deficits, degree of subluxation, and radiographic evidence of pedicle absence because these characteristics often provide insight into the specific etiology of the observed spinal deformity (congenital vs traumatic).
Topics: Adult; Cervical Vertebrae; Cohort Studies; Congenital Abnormalities; Female; Humans; Male; Middle Aged; Retrospective Studies; Spinal Fractures; Tomography, X-Ray Computed
PubMed: 18533417
DOI: 10.1080/10790268.2008.11753986 -
Pediatric Neurosurgery 1996Occipital plagiocephaly is characterized by both unilateral occipital flattening and ipsilateral frontal prominence with anterior deviation of the ipsilateral ear,... (Review)
Review
Occipital plagiocephaly is characterized by both unilateral occipital flattening and ipsilateral frontal prominence with anterior deviation of the ipsilateral ear, yielding a characteristic parallelogram shape to the cranium. Radiographic changes in the lambdoid suture are often evident, but the lambdoid suture is usually patent over most or all of its length on skull X-rays and/or CT scans. Both lambdoid synostosis and deformational forces have been implicated as potentially causal in the pathogenesis of this deformity. We proposed a unifying theory which incorporates a common pathogenesis for both deformational plagiocephaly and most cases of lambdoid 'synostosis'. According to this hypothesis, intrauterine and/or postnatal deformation forces are responsible for the primary calvarial deformation. These forces initially act in reversible manner to produce the typical parallelogram-shaped skull deformity. However, with continued deformation, more enduring secondary pathological changes may eventually occur in the lambdoid suture and basicranium which are more difficult to correct even if the offending deformational forces are subsequently removed or reversed.
Topics: Craniofacial Abnormalities; Craniosynostoses; Humans; Occipital Bone; Tomography, X-Ray Computed
PubMed: 8841076
DOI: 10.1159/000121019 -
Plastic and Reconstructive Surgery Sep 2006Traditionally, the goal of management of unilateral cleft lip-cleft nose deformity has been nasal symmetry, with improved nasolabial and nasofacial relationships and the...
BACKGROUND
Traditionally, the goal of management of unilateral cleft lip-cleft nose deformity has been nasal symmetry, with improved nasolabial and nasofacial relationships and the noncleft side as the reference point. However, symmetry does not always ensure an aesthetically desirable form. The retracted ala is characterized by an alar rim to the long axis of the nostril distance greater than 2 mm on lateral view of the nose. In the management of unilateral cleft lip nose deformity in a patient with a retracted ala of the noncleft side, a simple correction of the deformity symmetric to the noncleft side results in bilateral alar retraction, an aesthetically undesirable result.
METHODS
The authors present eight cases of managing unilateral cleft lip deformities with retracted alae of the noncleft side between January of 2003 and October of 2004.
RESULTS
Correction of alar retraction of the noncleft side with or without the correction of cleft lip nose deformity yielded better aesthetic results that were maintained throughout the follow-up period.
CONCLUSIONS
Aesthetic surgery is the natural evolution of reconstructive surgery; in the reconstruction of selected unilateral deformity, the concept of "as symmetric to the contralateral side as possible" should be changed to the pursuit of an aesthetically pleasing appearance of both sides.
Topics: Adolescent; Adult; Cleft Lip; Congenital Abnormalities; Esthetics; Facial Asymmetry; Female; Follow-Up Studies; Humans; Male; Nose; Nose Deformities, Acquired; Postoperative Complications; Rhinoplasty; Treatment Outcome
PubMed: 16932184
DOI: 10.1097/01.prs.0000232995.59635.7c -
The Journal of Pediatrics Jul 1964
Topics: Chromosomes, Human, Pair 18; Congenital Abnormalities; Hand Deformities; Humans; Infant; Infant, Newborn; Pathology; Radius; Thumb; Trisomy; Trisomy 18 Syndrome
PubMed: 14178817
DOI: 10.1016/s0022-3476(64)80595-3 -
ZFA. Zeitschrift Fur Allgemeinmedizin Jun 1982
Topics: Adult; Child; Congenital Abnormalities; Female; Hand Deformities, Congenital; Humans; Infant, Newborn; Leg; Male; Middle Aged; Radiography
PubMed: 7113386
DOI: No ID Found -
Connecticut Medicine Jan 2008A wide range of congenital chest wall deformities have been described over the years. The spectrum of severity may range from life threatening deformities such as cordis... (Review)
Review
A wide range of congenital chest wall deformities have been described over the years. The spectrum of severity may range from life threatening deformities such as cordis ectopia to those which pose functional limitations as growth and maturity approach adulthood. Until recently, pectus excavatum (PE) and carinatum(PC) malformations have generally been considered as primarily cosmetic abnormalities. "Open" surgical procedures to correct PE and PC involved extensive resection of cartilage and bone to remove the bony deformity often with lasting growth restriction of the chest wall. Minimally invasive surgery has recently been reported as an effective technique in correcting PE without removing healthy chest wall structures. Nonoperative bracing has been effectively applied to PC eliminating traditional surgical methods. This report presents the experience at the Connecticut Children's Medical Center (CCMC) in the treatment of these two common deformities using new, less invasive methods with excellent long-term results.
Topics: Adolescent; Age Factors; Child; Child Welfare; Child, Preschool; Congenital Abnormalities; Funnel Chest; Humans; Minimally Invasive Surgical Procedures; Musculoskeletal Abnormalities; Sternum; Thoracic Diseases; Thoracic Surgical Procedures; Thoracic Wall
PubMed: 18286876
DOI: No ID Found -
Journal of Pediatric Orthopedics. Part B Oct 1998Congenital deficiency of the tibia (tibial hemimelia, aplasia, or dysplasia) is very rare, with an incidence of approximately 1 per 1 million live births. The disorder... (Review)
Review
Congenital deficiency of the tibia (tibial hemimelia, aplasia, or dysplasia) is very rare, with an incidence of approximately 1 per 1 million live births. The disorder usually is accompanied by other congenital anomalies on the same limb or other parts of the body. A report is made of 22 limbs observed in 18 patients from 1970 to 1987 at San Juan de Dios Hospital in Caracas, Venezuela, with more than a 5-year follow-up. The report includes 11 girls and 7 boys, with observations of 11 left and 11 right tibiae. Familial antecedents were present in four patients: brother and sister and two brothers. According to the classification by Jones, Barnes, and Lloyd-Roberts, there were nine cases of type Ia, four of type Ib, three of type II, two of type III, and four of type IV. The foot of the affected limb was normal in only 12 cases. Treatment, always surgical, consisted of T/K amputation in 10 cases of types Ia and Ib, fibula pro tibia and B/K amputation in 1 case of type II, Syme amputations in 2 cases of type III, and astragalectomy and closure of diastasis in 4 cases of type IV deformity. Patients in five cases refused treatment. The sooner the amputation is performed, the easier and faster the rehabilitation and adaptation to the prosthesis. An early amputation is accepted by the child as a "congenital amputation."
Topics: Abnormalities, Multiple; Amputation, Surgical; Congenital Abnormalities; Female; Humans; Male; Pedigree; Radiography; Tibia; Treatment Outcome; Venezuela
PubMed: 9810529
DOI: 10.1097/01202412-199810000-00008 -
Hand Clinics Aug 1985The author describes eight types of hypoplastic thumb. This classification is important in planning reconstructive surgery, as the selection of an appropriate procedure...
The author describes eight types of hypoplastic thumb. This classification is important in planning reconstructive surgery, as the selection of an appropriate procedure depends largely upon the classification of the deformity.
Topics: Congenital Abnormalities; Fingers; Hand Deformities, Congenital; Humans; Metacarpus; Muscles; Thumb
PubMed: 3831052
DOI: No ID Found