Forearm Anomalies Research Articles

An Analysis of Associated Conditions and the Relationship Between the Severity of Hand Manifestations With That of the Forearm in Ulnar Longitudinal Deficiency

A deeper investigation of medical and musculoskeletal conditions in patients with ulnar longitudinal deficiency (ULD) is needed. The association between the severity of the manifestations of ULD in the hands and forearms has not been firmly established. The purpose of this study was to describe the medical and musculoskeletal conditions associated with ULD and examine the relationship between hand and forearm anomalies. The Congenital Upper Limb Differences registry was queried for all patients with a diagnosis of ULD, as defined by the Oberg-Manske-Tonkin classification system, between 2014 and 2020. The patients' demographic information, medical and musculoskeletal comorbidities, radiographs, and clinical images were reviewed. The participants were classified using the Bayne, Cole and Manske, and Ogino classification systems. Of 2,821 patients from the Congenital Upper Limb Differences registry, 75 patients (2.7%) with ULD (14 bilateral), with 89 affected extremities, were included. Hand anomalies were present in 93% of the patients. Approximately 19% of the patients had an associated medical comorbidity, and 20% of the patients had an associated musculoskeletal condition. Cardiac anomalies were present in 8.0% of the patients, and 12% of the patients had a lower extremity abnormality. Radial head dislocation was observed in 13 of 18 patients with Bayne type II or III ULD compared with 8 of 43 patients with other types of unilateral ULD. There was a significant positive association among the Bayne and Ogino, Bayne and Cole/Manske, and Ogino and Cole/Manske classification systems in patients with unilateral ULD. Associated medical and musculoskeletal conditions are common in patients with ULD, of which cardiac and lower extremity abnormalities are most frequently observed. There is a significant positive association between the severity of forearm anomalies and that of hand anomalies in patients with unilateral ULD. All patients with ULD should undergo a thorough cardiac evaluation by their pediatrician or a pediatric cardiologist. Symptom prevalence study III.

Detection of <i>SHOX</i> Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature

Objective:SHOX gene mutations constitute one of the genetic causes of short stature. The clinical phenotype includes variable degrees of growth impairment, such as Langer mesomelic dysplasia (LMD), Léri-Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS). The aim of this study was to describe the clinical features and molecular results of SHOX deficiency in a group of Turkish patients who had skeletal findings with and without short stature.Methods:Forty-six patients with ISS, disproportionate short stature or skeletal findings without short stature from 35 different families were included. SHOX gene analysis was performed using Sanger sequencing and multiplex ligation-dependent probe amplification analysis.Results:Three different point mutations (two nonsense, one frameshift) and one whole SHOX gene deletion were detected in 15 patients from four different families. While 4/15 patients had LMD, the remaining patients had clinical features compatible with LWD. Madelung’s deformity, cubitus valgus, muscular hypertrophy and short forearm were the most common phenotypic features, as well as short stature. Additionally, hearing loss was detected in two patients with LMD.Conclusion:This study has presented the clinical spectrum and molecular findings of 15 patients with SHOX gene mutations or deletions. SHOX deficiency should be especially considered in patients who have disproportionate short stature or forearm anomalies with or without short stature. Although most of the patients had partial or whole gene deletions, SHOX gene sequencing should be performed in suspected cases. Furthermore, conductive hearing loss may rarely accompany these clinical manifestations.

Outcome of Centralization and Ulnarization of the Carpus with Ulnar Shortening Osteotomy on Functioning in Children with Radial Club Hand.

Radial club hand (RCH) is characterized by a wide array of hand and forearm anomalies. Various treatment approaches have been described depending upon the stages of RCH. The major drawback of these studies is that the effectiveness of these interventions was reported on clinical and radiological outcomes. With the increasing focus on patient-centered care nowadays, we wanted to identify the components associated with functioning and evaluate the effectiveness of two surgical procedures on functional outcomes using the International Classification of Functioning, Disability and Health (ICF)-based tools. We identified 14 children from our records (nine boys, five girls) with a mean age of 5.6years, classified as Bayne types III-IV and classified them into two groups; those who were operated by centralization (group 1) and ulnarization of the carpus with ulnar shortening osteotomy procedure (group 2). The outcomes were evaluated by the brief ICF core set for the child and youth with cerebral palsy up to the age of 5 and the brief ICF core set for hand conditions for a period of 1year after surgery. The results showed that both the operative techniques showed improvement in the structure component (s730-structure of upper extremity). ICF categories of d445-hand and arm use, d530-toileting, and d880-engagement in play showed a change in frequencies of more than 40% after surgery and were maintained till follow-up. However, categories related to muscle power functions (b730), muscle tone (b735), fine hand use (d440), hand and arm use (d445) and engagement in play (d880) showed no significant improvement (p > 0.05). There were no differences between both the surgical procedures in improving the outcomes (p > 0.05). We conclude that surgical techniques may be more appropriate to improve the cosmetic or structural appearance of the upper extremity than functioning.

Experimental evidence that preaxial polydactyly and forearm radial deficiencies may share a common developmental origin.

Preaxial polydactyly is a congenital hand anomaly predominantly of sporadic occurrence, which is frequently associated with abnormalities of the Sonic hedgehog signalling pathway. In experimentally induced preaxial polydactyly, radial aplasia is also frequently observed. To determine if there is a correlation between preaxial polydactyly and radial aplasia, we induced ectopic Sonic hedgehog signalling during chicken limb development with application of a smoothened-agonist (SAG) or retinoic acid. Application of SAG caused malformations in 71% limbs including preaxial polydactyly (62%) and forearm abnormalities (43%). Retinoic acid application induced malformations in 56% of limb including preaxial polydactyly (45%) and forearm abnormalities (50%). Radial dysplasia and ulnar dimelia were observed in both experimental conditions. We demonstrate that ectopic Sonic hedgehog signalling may cause both preaxial polydactyly and predictable forearm anomalies and that these conditions could potentially be classified as one embryological group. We propose a unifying model based on known models of ectopic Sonic hedgehog signalling.

Prevalence of SHOX haploinsufficiency among short statured children.

The aim of this clinical study was to determine the prevalence of SHOX haploinsufficiency in a population of short stature patients and describe their anthropometric measurements. 574 short statured patients were evaluated in a single center (1992-2015). SHOX copy number was detected by quantitative polymerase chain reaction (qPCR) in 574 subjects, followed by multiplex ligation-dependent probe amplification (MLPA) and DNA sequencing in subjects with SHOX haploinsufficiency. We evaluated anthropometric measurements at birth, and at first examination. Skeletal abnormalities were recorded for patients with SHOX haploinsufficiency. Thirty-two patients were excluded due to Turner syndrome (n = 28), SRY-positive 46,XX male karyotype (n = 1), or lacked clinical follow-up information (n = 3). The prevalence of SHOX haploinsufficiency was 9 out of 542 (1.7%). The nine children had decreased height -2.85 (0.6) SD scores (SDS) (mean (SD)) and weight -2.15 (1.36) SDS, P < 0.001 and P = 0.001, respectively. The sitting height/height ratio was increased, P = 0.04. Madelung deformity was diagnosed in three patients. Mean height was -2.9 (0.4) SDS at baseline and increased by 0.25 (0.2) SDS, P = 0.046, after 1 y of growth hormone (GH) treatment. The prevalence of SHOX haploinsufficiency was 1.7%. The clinical findings indicating SHOX haploinsufficiency among the nine children were disproportionate short stature and forearm anomalies.

Fetal forearm anomalies: prenatal diagnosis, associations and management strategy

To determine the underlying associations in fetuses with forearm anomalies, and to derive a management strategy to improve prenatal diagnosis and parental counselling. A retrospective review of fetal medicine unit records to identify all cases with an absent, short or abnormal radius and/or ulna. Cases with a generalised skeletal dysplasia were excluded. Fetal medicine, maternal, neonatal and, where appropriate, histopathological reports, were reviewed. Sixty-six cases were identified. Two were lost to follow-up and subsequently omitted. Chromosomal anomalies accounted for 19 cases (29.7%), genetic syndromes for 19 (29.7%) and isolated forearm defects for 15 cases (23%). A definitive postnatal diagnosis was made in 54 cases (84%). In 45 of the 64 (70%) cases, a correct prenatal diagnosis was made. Cases with bilateral lesions had a significantly higher association with aneuploidy and genetic syndromes, while those with a sonographically isolated unilateral forearm defect had a very low incidence of other underlying pathology. Fetuses with bilateral forearm defects or those with unilateral lesions and other abnormalities detected prenatally have a high incidence of aneuploidy and genetic syndromes. Isolated, unilateral lesions usually have a good prognosis. A management strategy is presented to aid accurate prenatal diagnosis and parental counselling.

Brachmann–de Lange syndrome: definition of prenatal sonographic features to facilitate definitive prenatal diagnosis

The objective was to improve the prenatal diagnosis of Brachmann-de Lange syndrome (BDLS) by defining the sonographic criteria. Retrospective review of Fetal Medicine Unit (FMU) notes from 1998 to 2009 to identify all cases seen with a final diagnosis of BDLS. Literature review undertaken to ascertain all cases where sonographic features of BDLS had been described. Information was pooled to define the most common features. Seven cases were identified from review of FMU records. The diagnosis was suspected prenatally in four of the seven. All had asymmetrical forearm defects with oligodactyly/polydactyly, five had intrauterine growth restriction (IUGR) and five had abnormal facial features including micrognathia and/or a long overhanging philtrum. A further 28 cases were identified in the literature, but the diagnosis was only suspected prenatally in nine. Overall the most common feature was IUGR (80%); upper limb anomalies were detected in nearly half of cases. Other common features included facial anomalies (40%), diaphragmatic hernia (34%), increased nuchal translucency/fold (37%) and cardiac anomalies (14%). Identification of asymmetrical oligodactyly with or without forearm anomalies associated with microcephaly and/or IUGR or diaphragmatic hernia are findings that should arouse suspicion of BDLS, although definitive diagnosis at present would have to await delivery in the majority of cases.

OC239: Fetal forearm anomalies: prenatal diagnosis, associations and management strategies

OC239: Fetal forearm anomalies: prenatal diagnosis, associations and management strategies

P03.11: The incidence and significance of anomalies and soft markers after screening for Down syndrome by the integrated test

Conclusions: Cornelia de Lange syndrome is a complex dysmorphic syndrome which can confer significant long-term morbidity. The gene for this condition has recently been identified and recognition of the sonographic features will help target prenatal investigations. The review presented here suggests that identification of forearm anomalies with oligodactyly combined with microcephaly and/or measurements ≤5th percentile with typical facial anomalies are findings that should arouse suspicion of this condition, although definitive diagnosis at present would have to await delivery.

A morpho-etiological description of congenital limb anomalies

BACKGROUNDLimb anomalies rank behind congenital heart disease as the most common birth defects observed in infants. More than 50 classifications for limb anomalies based on morphology and osseous anatomy have been drafted over the past 150 years. The present work aims to provide a concise summary of the most common congenital limb anomalies on a morpho-etiological basis.PATIENTS AND METHODSIn a retrospective study, 70 newborns with anomalies of the upper and/or lower limbs were ascertained through clinical examination, chromosomal analysis, skeletal surveys and other relevant investigations.RESULTSFetal causes of limb anomalies represented 55.8% of the cases in the form of 9 cases (12.9%) with chromosomal aberrations (trisomy 13, 18 and 21, duplication 13q and deletion 22q) and 30 cases (42.9%) with single gene disorders. An environmental etiology for limb anomalies was diagnosed in 11 cases (15.7%) as amniotic band disruption, monozygotic twin with abnormal circulation, vascular disruption (Poland sequence, sirenomelia and general vascular disruption) and an infant with a diabetic mother. Twenty cases (28.5%) had limb anomalies as part of sporadic syndromes of unknown etiology.CONCLUSIONSThe morpho-etiological work-up of limb anomalies adopted in the present study is valuable for detecting the cause of the anomaly and is crucial for its prevention. Prevention can be achieved by proper genetic counseling, which includes recurrence risk estimation and prenatal diagnosis.

Congenital hand and forearm anomalies.

Congenital anomalies of the hand and forearm remain a continuing challenge for the patient and the patient's family. Health care professionals, including the pediatrician, the orthopedic surgeon, and the hand surgeon, all have roles to play in the treatment of these patients. This article reviews the literature for the past year with special emphasis on recent developments in the genetic transmission of some of these interesting congenital differences.

A Case of Volar Dislocation of the Ulna at the Inferior Radio-Ulnar joint

Chronic dislocation of the distal Radio-ulnar articulation associated with wrist fractures, arthritis, and forearm anomalies is well recognized.It is seldom appreciated, however, that dislocation of this joint can occur as an acute traumatic injury, Without any associated fracture, and that failure to recongnize the acute injury will result in marked and chronic disability of the forearm and hand.We treated a case of volar dislocation of the Ulna at the distal radio-ulnar joint.Patient is fifty Years oldmale. Ceosed reduktion was accomplisched under general anesthesia within twenty four hours of injury.The wrist was immobilized in an above-the-elbow cast with the forearm in pronation for twenty days.He regained full motion without difficulty after removed of the cost.