Spontaneous improvement of bilateral clinodactyly of the little finger with trapezoidal phalanx: a case report with a 15-year follow-up.

Clinodactyly can be produced by a longitudinal epiphyseal bracket that generates either a 'delta' or 'trapezoidal' phalanx. We present a case with a 15-year follow-up of bilateral clinodactyly of the little finger, to emphasize a 'wait-and-see' approach as self-remodelling of his phalanges occurred during growth.

Long-Term Follow-Up of Ulnar Growth in Radial Dysplasia Treated by a Combination of Distraction and Radialization.

PURPOSE: To study the long-term results of radial club hand, regarding ulna growth, radial angulation, and volar subluxation using a 2-stage treatment protocol. METHODS: From 1998 to 2009, 39 radial club hands (32 patients) were treated with distraction, radialization, and a bilobed flap. Long-term follow-up was available in 13 patients (17 hands; average 12.6 years, range 9-16 years). All 17 hands were classified as Bayne and Klug grade 3 or 4. RESULTS: The average age at distraction was 12 months (SD 5.3). The average age at radialization was 14 months (SD 5.8). At final follow-up, the average ulna length on the involved side was 69.3% of the uninvolved contralateral side in the unilateral cases. In the 4 bilateral cases, the average ulna length was 62% of the ulna length of a cohort of normal children. The transverse diameter of the ulna in the posteroanterior view was 79%, and in the lateral view 99%, of the radius on the contralateral side in the unilateral cases. The average radial deviation improved from 82° to 8° and the average volar subluxation improved from 20° to 12°. However, in 4 hands recurrent volar subluxation and required revision surgery. CONCLUSIONS: This approach to treatment was associated with consistent results in the correction of the radial angulation, volar subluxation, and ulna growth in long-term follow-up. Volar subluxation may result in a requirement for revision. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Fatty filum terminale and low-lying conus medullaris in Gollop-Wolfgang complex: a case report and review of literature.

BACKGROUND/IMPORTANCE: Gollop-Wolfgang complex is a rare skeletal dysplasia with only 200 cases reported in the literature. This disorder is usually associated with several extraosseous anomalies. This report describes the first case of a fatty filum terminale and a low-lying conus medullaris in a patient with this complex. A review of the current literature of the Gollop-Wolfgang complex accompanies this case, highlighting the documented extraosseous anomalies seen in this complex. CLINICAL PRESENTATION: We report a case of an 18-month-old patient with Gollop-Wolfgang complex who underwent cord untethering with release of the filum terminale after extensive workup showed the presence of a dyssynergic bladder and radiological evaluation revealed a fatty filum terminale and low-lying conus medullaris. CONCLUSION: Gollop-Wolfgang complex is a skeletal dysplasia usually associated with several extra skeletal anomalies. Our report describes the first case of a fatty filum terminale and low-lying conus medullaris in this complex, as well as provides an overview of the documented anomalies seen in this disorder. A multidisciplinary approach is recommended when treating these infants in order to ensure that occult manifestations of the complex are not missed.

Triphalangeal thump, thumb duplication, and syndactyly: The first case report in the literature.

RATIONALE: Triphalangeal thumb (TPT) is a rare congenital malformation where the thumb has three phalanges instead of two. Syndactyly is a condition in which children are born with fused or webbed fingers. The combination of TPT, Syndactyly, and thumb duplication is extremely rare, especially when these deformities are combined in one hand. PATIENT CONCERNS: Hand abnormalities and polydactyl have been reported in a 1-year-old boy. DIAGNOSIS: A clinical examination reveals two thumb duplications, finger fusion (Syndactyly), and a thumb with three phalanges (TPT). The diagnosis was based on clinical findings and an X-ray image of the hand. INTERVENTIONS: The Z-plasty method was used to remove the adhesion between the thumb and forefinger, as well as the removal of the medial and distal phalanx of the thumb's medial tip. OUTCOMES: The patient was followed for 2 months and found him in good health. To authors' knowledge, we described an unusual case from Syria, considered the first in medical history. LESSONS LEARNED: General and plastic surgeons should be aware about this unusual mix of the three abnormalities. The family history must also be carefully investigated to explore the occurrence of hereditary illnesses.

Mirror hand-ulnar dimelia: a single centre experience with 13 patients.

Mirror hand-ulnar dimelia (MHUD) is rare congenital disorder with a wide range of clinical and radiographic features. The current nomenclature is confusing and the existing classification systems focus mainly on morphology without providing much guidance for treatment. The goal of this study was to review the clinical and radiological features in 13 children with MHUD that were treated at a single institution. Our findings support the hypothesis that MHUD typically involves the entire upper limb, and the treatment plan should consider the predictors of function at each limb segment. A logical and comprehensive management algorithm is proposed.Level of evidence: IV.

Surgical Treatment of Ulnar Cleft Hand with All Fingers - A Report of Two Patients.

An ulnar cleft hand is a rare congenital deformity presenting with a cleft between the ring and little finger. It may be associated with the absence of a finger. The goals of treatment are cleft closure, increasing the length of the hypoplastic little finger and preservation of function. We report two patients with ulnar cleft hand without missing fingers. Both underwent cleft closure. One was treated by lengthening of the fifth metacarpal with an external fixator, and the other by finger translocation. Both patients achieved a near normal length of the little finger and a reasonable functional and aesthetic outcome. Level of Evidence: Level V (Therapeutic).

A retrospective comparison of total versus partial cross-bone resection in surgical management of congenital cleft hand.

This study aimed to compare clinical and radiographical results of total or partial resection of the cross-bone in the management of children with cleft hand. Nine children with 10 cleft hands who underwent resection of the cross-bone were retrospectively identified and divided into two groups based on type of resection: Group T (total resection) including 5 children (5 affected hands; 3 boys; mean age = 3.5 (range, 2-5) years), and Group P (partial resection) including 4 children (5 affected hands; 3 boys; mean age = 3.2 (range, 2-5) years). Mean follow-up was 68 (range, 60-85) months in group T and 47 (range, 40-60) months in group P. To assess clinical status, postoperative cosmetic satisfaction was evaluated by asking the parents, and cosmetic appearance was rated using a visual analogue scale (VAS) at the follow-up. In the radiographical evaluation, change in cleft divergence following reconstruction was assessed as the metacarpal divergence angle between the index and the ring finger metacarpals. Overall, cosmetic satisfaction was rated "very satisfied" or "satisfied" in 7 of the 10 hands, and functional satisfaction as "very satisfied" or "satisfied" in all. Mean postoperative cosmetic aspect on VAS was 6.4 (range, 5-8) in group T, and 6.2 (range, 4-8) in group P (p = 0.99). Mean metacarpal divergence angle significantly decreased from 42.2° (range, 35-52°) and 40.2° (range, 36-46°) preoperatively to 21.2° (range, 15-35°) and 19.8° (range = 12-31°) at 3-year follow-up in groups T and P, respectively (p < 0.001 for each group). Both total and partial cross-bone resection provided satisfactory clinical and radiographical medium-term results for of children with cleft hand.

Surgical Management of Craniomaxillofacial Features in the Otopalatodigital Spectrum Disorders.

ABSTRACT: Otopalatodigital syndrome spectrum disorders are caused by Filamin A (FLNA) gene mutations. Otopalatodigital syndrome spectrum disorders are a group of rare congenital skeletal dysplasia, with specific craniomaxillofacial features including otopalatodigital syndrome type 1 and type 2, Melnick-Needles syndrome, frontometaphyseal dysplasia, terminal osseous dysplasia with pigmentary defects. The authors describe cases of a young girl with Melnick-Needles syndrome and a young boy with frontometaphyseal dysplasia treated in the Oral and Maxillofacial Surgery Department. Both patients had FLNA gene mutation confirmed with molecular genetic analysis. The authors proposed a 4 step treatment of the malformations with good outcomes both aesthetically and functionally, without complication.

Metacarpophalangeal profile pattern analysis in a further patient with a novel ARID1B variant.

Acral clinical and radiographic characteristics of a further patient with Coffin-Siris syndrome (CSS), which is caused by mutations in the ARID1B gene, encoding a subunit of the BAF-complex, are here described. Metacarpophalangeal profile pattern analysis (MCPPPA) of the present proband and other two known ARID1B mutated individuals has been performed for the first time, demonstrating hands brachydactyly. In this novel study, the utility of an accurate appendicular radiographic examination and MCPPPA in this congenital condition is highlighted. The MCPPPA could be considered in the clinical practice, to better study the hand skeletal morphology in patients with a syndrome characterized by limb defects, including CSS.

Use of anterolateral thigh free flap for reconstruction and salvage of thoracic limb caused by an arteriovenous malformation.

Vascular arteriovenous malformations originate during the early stages of embryonic development and generally grow progressively, especially during adolescence and pregnancy. Limb salvage using microsurgery is presented, in a patient with an arteriovenous malformation who was initially a candidate for limb amputation. En bloc resection of the arteriovenous malformation of all segments with extended brachial approach and the cutaneous component was performed, with an anterolateral thigh free flap for the lateral reconstruction of the hand.

Temporal bone dysplasia in Coffin-Siris syndrome.

We report a child, diagnosed with Coffin-Siris syndrome (CSS), with chronic right otorrhoea. CT and DR-MRI were performed to further investigate, diagnose and determine relevant surgical anatomy. CT temporal bones assessment was performed, and the measurements compared with previously published data for normal temporal bone anatomy. These comparisons highlighted various differences which were not initially expected; it showed that there were multiple inner ear abnormalities in addition to middle ear disease. This case highlights the importance of considering temporal bone abnormalities in all children with CSS or any dysmorphia, when they may require mastoid procedures. Reviewing the management of this case provides relevant learning opportunities for both primary, secondary and tertiary care institutions.

Carpenter syndrome in a patient from Tanzania.

Carpenter syndrome (acrocephalopolysyndactyly type II) is a rare autosomal recessive disorder. It was clinically diagnosed in a female baby with polysyndactyly and craniosynostosis in a referral clinic in Northern Tanzania. In the RAB23 gene, a previously described homozygous variant c.82C>T p.(Arg28*) was detected that results in a premature stop codon. Both parents were demonstrated to be heterozygous carriers of this variant. Herewith, its pathogenicity is proved. A literature search suggests this is the first molecularly confirmed case of Carpenter syndrome in continental Africa.

Kirner's deformity of the fifth finger: A case report.

RATIONALE: Kirner's deformity is an uncommon deformity of finger, characterized by palmo-radial curvature of distal phalanx of the fifth finger. The specific mechanism remains unknown yet. This study aims to present a case report to add the knowledge on this type of deformity. PATIENT CONCERNS: A 9-year-old girl presenting with deformity of her fifth finger since she was born was admitted to our hand surgery clinic. MRI findings showed widened epiphyseal plate, L-shaped physis, but normal flexor digitorum profundus tendon insertion, without any significantly enhanced soft issues. DIAGNOSIS: Kirner's deformity of the fifth finger. INTERVENTIONS: We presented 2 surgical choices for the patient: one was wedge osteotomy of the distal phalanx to correct the mechanical line of the distal phalanx and fixation with Kirschner wire and the other one was cut-off of deep flexor tendon insertion with brace immobilization, but her guardians refused either of them. OUTCOMES: Consecutive follow-up was performed for 19 months after the first visit, showing no any change in finger shape and function. LESSONS: The L-shaped epiphyses may be the cause of Kirner's deformity and further attention should be paid on in the clinic. This case report provided a basis for the etiological diagnosis and future treatment of Kirner's deformity.

Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.

Mosaic genetic mutations may be somatic, germline, or "gonosomal" and have the potential to cause genetic syndromes, disorders, or malformations. Mutations can occur at any point in embryonic development and the timing determines the extent of distribution of the mutation throughout the body and different tissue types. The eye and visual pathway offer a unique opportunity to study somatic and gonosomal mosaic mutations as the eye consists of tissues derived from all three germ layers allowing disease pathology to be assessed with noninvasive imaging. In this review, we describe systemic and ocular manifestations in a child with mosaic Coffin-Siris syndrome. The patient presented with a significant medical history of accommodative esotropia and hyperopia, macrocephaly, polydactyly, global developmental delay, hypotonia, ureteropelvic junction (UPJ) obstruction, and brain MRI abnormalities. The ophthalmic findings in this patient were nonspecific, however, they are consistent with ocular manifestations reported in other patients with Coffin-Siris syndrome. We also review ophthalmic findings of select mosaic chromosomal and single-gene disorders. Ophthalmic assessment alongside clinical genetic testing may play an important role in diagnosis of genetic syndromes as well as understanding disease pathology, particularly when mosaicism plays a role.

Congenital radioulnar synostosis presenting in adulthood - a case report.

Congenital radioulnar synostosis is a rare developmental skeletal malformation of the upper limb, characterized by the fusion of the proximal ends of the radius and ulna from birth. The failure of prenatal longitudinal segmentation of the adjacent radius and ulna results in a fibrous bony bridge between the radius and ulna. We present a 23-year-old female who presented with pain and restricted mobility of the left elbow joint for 7 years. A plain X-ray was performed for the patient, revealing a diagnosis of congenital radio-ulnar synostosis. Careful evaluation of the anatomical relations and spatial orientation of bony structures is required for the diagnosis and treatment of such cases.

Pure 9p duplication syndrome with aplasia of the middle phalanges of the fifth fingers.

9p duplication syndrome is a common congenital anomaly syndrome with specific facial features, mental and developmental retardations, and characteristic fingers. Pure 9p duplication without other chromosomal structural variations is very rare. It has recently been reported that cases with partial 9p duplication including SMARCA2 have phenotypes overlapping with Coffin-Siris syndrome (CSS). Herein, we present a family with pure 9p duplication syndrome in which phenotypes partially characteristic of CSS were identified. In one of two siblings, X-ray examination revealed hypoplasia of the distal phalanges of the fifth fingers, aplasia of the middle phalanges of the fifth fingers, and aplasia of the distal phalanges of the second to fifth toes. In pure 9p duplication together with our one affected case, 9 out of 14 cases (64.3%), excluding cases whose clinical data were unavailable, presented the absence or hypoplasia of the middle phalanges of fingers or toes. Interestingly, there are no reports on CSS with aplasia or hypoplasia of the middle phalanx. Therefore, this family might suggest that the aplasia or hypoplasia of the middle phalanges of the fifth fingers or toes is a distinct finding that can distinguish between pure 9p duplication and CSS.

Hyoid Bone Position and Head Posture in Patients With Richieri-Costa Pereira Syndrome (EIF4A3 Mutations).

Robin sequence with cleft mandible and limb anomalies, known as Richieri-Costa-Pereira syndrome (RCPS), is an autosomal recessive acrofacial dysostosis characterized by mandibular cleft and other craniofacial anomalies and respiratory complications. The aim of this cross-sectional study was to describe the hyoid and head posture of 9 individuals with RCPS using cephalometric measurements and provide a discussion about its implications in obstructive sleep apnea syndrome (OSAS). The study was conducted on lateral cephalograms of patients with RCPS and 9 selected age-matched controls in tertiary cleft center in Brazil. The cephalograms were digitized and analyzed on a software to obtain the vertical and horizontal hyoid position, its relationship with the mandible and the relation of the cranial base and postvertebral line. The t test was used for analysis of means and Levene's test for equality of variances.Cephalometric measurements H-S (vertical distance between hyoid bone and sella) (Supplemental Digital Content, Figure 1, http://links.lww.com/SCS/B247) and H-C4lp (horizontal position of the hyoid in relation to the post-pharyngeal space) showed statistically significant difference compared to controls (P < 0.05). Therefore, the hyoid bone was more inferiorly and posteriorly positioned in the study group compared with the control group. The vertebrae measurements did not present differences compared to controls. The described position of hyoid bone could be involved in the severe OSAS of RCPS patients.