Interosseous atrophy beyond rheumatoid arthritis, a manifestation of amyotrophic lateral sclerosis

Interosseous atrophy of the hand is not an exclusive finding of rheumatoid arthritis, and in the case of amyotrophic lateral sclerosis it has a significant diagnostic and prognostic value. The physical examination and evidence of the "split hand" sign or sign of the double anatomical snuffbox is a finding that should alert the clinician to the need for complementary studies in order to rule out neurological pathology.

La atrofia de interóseos de la mano no es un hallazgo exclusivo de la artritis reumatoide, en el caso de la esclerosis lateral amiotrófica tiene un valor diagnóstico y pronóstico significativo, por lo que la exploración física y la evidencia del signo de la mano partida o signo de la doble tabaquera anatómica es un hallazgo que debe alertar al clínico de la necesidad de realizar estudios complementarios para descartar una enfermedad neurológica.

Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation

Abstract Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic disorder. It is a clinically and genetically heterogeneous group of limb malformations characterized by absence/hypoplasia and/or median cleft of hands and/or feet. To date, seven genes underlying SHFM have been identified. This study described four consanguineous families (A-D) segregating SHFM in an autosomal recessive manner. Linkage in the families was established to chromosome 12p11.1-q13.13 harboring WNT10B gene. Sequence analysis identified a novel homozygous nonsense variant (p.Gln154*) in exon 4 of the WNT10B gene in two families (A and B). In the other two families (C and D), a previously reported variant (c.300_306dupAGGGCGG; p.Leu103Argfs*53) was detected. This study further expands the spectrum of the sequence variants reported in the WNT10B gene, which result in the split hand/foot malformation.

Electrophysiological characteristics of the split hand syndrome in amyotrophic lateral sclerosis and the variant / 中华神经科杂志

Objective To study the electrophysiological characteristics of hands muscle of upper limb onset amyotrophic lateral sclerosis (UL-ALS), and the variant-flail arm syndrome (FAS) for diagnosis and differential diagnosis. Methods We chose 55 UL-ALS and 12 FAS patients as the cases, 20 cervical spondylotic amyotrophy (CSA) patients as the case controls, and 20 healthy volunteers as the normal controls from January 2013 to March 2018 in the Third Central Hospital of Tianjin. Conventional nerve conduction studies of the median nerve and ulnar nerve were performed in all the patients. The main analysis was done in the compound muscle action potential (CMAP) recorded on the abductor pollicis brevis (APB) and abductor digiti minimi (ADM) and the ratio of the two. Results The ratio of CMAPAPB/CMAPADM of ALS was 0.59 (0.25, 0.79), which was depressed obviously compared with FAS (1.02 (0.92, 1.18), Z=-4.440, P=0.000), CSA (1.88 (1.42, 3.19), Z=-5.902,P=0.000) and the normal controls (0.96 (0.88, 1.15), Z=-5.416, P=0.000). The low ratio of CMAPAPB/CMAPADM (<0.6) was encountered in 40％(23/55) ALS patients, 0 CSA patient and 1/12 FAS patients. An absent APB CMAP and an abnormally low APB/ADM CMAP amplitude ratio (<0.25) were observed only in 25.4％ (14/55) ALS patients. The area under receiver operating characteristic curve in patients of UL-ALS was 0.911 (P=0.000), and in FAS was 0.518 (P=0.559). Using a cut-off value of CMAPAPB/CMAPADM=0.7 for diagnosing ALS yielded 85.5％sensitivity and 95.0％specificity. Conclusion The split hand syndrome is not specific for ALS; however, the low APB/ADM CMAP amplitude ratio may help predict prognosis and can be the diagnostic marker for ALS.

Split-hand sign in the patients with amyotrophic lateral sclerosis / 中华神经科杂志

Objective To investigate the diagnostic value of the split-hand sign in amyotrophic lateral sclerosis ( ALS).Methods Ninety ALS patients, 41 patients with other neuromuscular disorders and 71 normal controls were recruited for conventional nerve conduction study.Compound muscle action potential ( CMAP) amplitude recorded from abductor pollicis brevis ( APB) , abductor digiti minimi ( ADM) and first dorsal interosseous (FDI), CMAP amplitude ratios, CMAP amplitude differences and split-hand index ( SI) were analyzed.Results The APB/ADM CMAP amplitude ratio was significantly lower in the ALS patients (0.44(0.44)) than that in the patients with other neuromuscular disorders (1.31(0.87);z=6.967, P<0.01) and the normal controls (0.99(0.42);z=7.687, P<0.01).The FDI/ADM CMAP amplitude ratio was significantly decreased in the ALS patients ( 0.79 ( 0.46 ) ) compared with that in the normal controls ( 1.23 ( 0.39 ); z =5.899, P <0.01 ).The FDI/ADM CMAP amplitude ratio was comparable between the ALS patients and the patients with other neuromuscular disorders ( 0.93 ( 0.62 );z=1.737,P=0.081).SI was significantly lower in the ALS patients (2.42 (3.14)) than that in the patients with other neuromuscular disorders (10.10(6.54);q=7.947, P<0.05) and the normal controls (17.93(8.32);q=10.827, P<0.05).SI <5.2 can help differentiate ALS from mimic disorders, with a sensitivity of 83.33% and specificity of 96.43%.Conclusions The split-hand sign appears to be a specific feature of ALS.SI robustly differentiates ALS from mimic disorders and potentially facilitates an earlier diagnosis of ALS.

Split hand/split-foot malformations: a report of four cases in a family with variable presentations.

Split hand/split-foot malformation is a congenital anomaly with failure of development of the central digital rays of hand or foot to a variable extent. It is characterized by hypoplasia/aplasia of the phalanges, toes, metacarpals and metatarsals. The presentation may be an isolated anomaly or may be associated with syndrome and thus have variable pattern of inheritance. We report a family of 10 members; four of which are affected with autosomal recessive pattern of inheritance. We discuss here the clinical presentation, genetic inheritance, prenatal diagnosis and treatment for the malformation.

Medical Mystery: Ectrodactyly A Case Report.

Congenital absence of all or part of one ormore fingers or toes is defined as Ectrodactyly. It is the word derived from Greek ektromameaning “abortion” and dactylymeaning digits. Also called split hand or footmalformation (SHFM), Ectrodactyly is a rare limb malformation with median cleft of hand and foot and aplasia or hypoplasia of the phalanges, metacarpals andmetatarsals. Irregular pattern of inheritance exists for ectrodactyly;may be autosomal dominant, autosomal recessive or X linked. In this condition, themedian cleft of the hand gives the hand, the appearance of lobster claws- so also called ‘Lobster Claw Hand”. Ectrodactylymay be very commonly associated with other anomalies of face, eyes and skeletal system. We report a rare case of unilateral ectrodactyly of right hand .The present case is not associated with any other anomaly as described in various textbooks and reference articles. The details of etiology, diagnosis, genetic causes, association with other anomalies and treatment will be discussed.

Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: A prenatal diagnosis report

Distal limb deformities are congenital malformations with phenotypic variability and high genetic heterogeneity. Split hand/foot malformation, also known as ectrodactyly, is a congenital limb malformation characterized by a defect of the central rays of the hands and/or feet. Split hand/foot malformation with long-bone deficiency (SHFLD) is a rare condition related to a 17p13.3 duplication. Recently, genomic duplications encompassing BHLHA9 have been associated with SHFLD. We report a case of SHFLD presenting with campomelia of the right femur, bilateral agenesis of fibulae, bilateral club feet, and oligosyndactyly of the hands and feet, that was associated with a 17p13.3 duplication, as determined prenatally using array comparative genomic hybridization.

Lobster claw deformity.

Endogenous erythroid colony (EEC) syndrome comprise of three cardinal features, i.e. ectrodactyly, ectodermal dysplasia and cleft lip. EEC itself has three different forms. Ectrodactyly (absence of one or more digits) can be present with clefting in the proximal portion of hand or foot known as split hand foot malformation (SHFM) or lobster claw deformity. SHFM can be of four types depending upon the different responsible chromosomal loci. SHFM-4 can be present as pure limb malformation (non-syndromic form). In this article, describes a rare case report of lobster claw deformity patient.

Split-hand/feet malformation in three tamilian families and review of the reports from India.

Split‑hand/foot malformation (SHFM) is a rare condition which can be either syndromic or nonsyndromic. We report three unrelated pedigrees, one with autosomal dominant (AD) inheritance and the other two with autosomal recessive (AR) pattern. We also briefly review the published reports from India.

Ectrodactyly: A rare anomaly of limbs.

Split-hand/split-foot malformation (SHFM) is a rare congenital malformation of the limbs with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of nonsyndromic form of ectrodactyly because of its rarity.

Ectrodactyly/split hand feet malformation.

Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the malformation.

Prenatally diagnosed split hand malformation at 16 weeks' gestation by 3D ultrasonography / 대한산부인과학회지

Split hand malformation is a rare malformation with various presentations. The current report describes a case of split hand malformation detected using 2D and 3D ultrasonography at 16 weeks` gestation. 2D ultrasonographic findings were split hand malformation in the right hand and monodactyly in the left hand , and those findings were confirmed and further clarified using 3D imaging. Postmortem X ray findings were consistent with the ultrasonographic findings. We conclude that 3D ultrasonography can assist in clarifying 2D ultrasonography findings of hand malformations during the second trimester of pregnancy.

A Case of Split Hand Split Foot Malformation Associated with Pericentric Inversion of Chromosome 9 / 대한주산의학회잡지

Split hand split foot malformation (SHFM) is a human developmental disorder characterized by a deep median cleft in the hands and feet, missing digits, and fusion of the remaining digits. The disease itself is considered to be very rare, affecting one out of 90,000 newborn babies. SHFM is genetically heterogeneous. To date, five SHFM loci have been mapped, to chromosome 2, 3, 7, 10 and X, respectively. We experienced a case of SHFM in a male neonate who had lobster-claw deformities of the hands and feet. The karyotype of his chromosome was 46,XY,inv (9) (p12q13). We report the case with the review of the associated literatures.

A Case of Split Hand Split Foot Anomaly

We experienced a case of split hand split foot(SHSF) anomaly in a male neonate who had a deficiency of the middle finger, syndactyly of the 1st and 2nd finger and a deep median cleft in both hands. He also had a deep median cleft between 2nd and 3rd toe, syndactyly of the 1st and 2nd, 3rd and 4th toe without deficiency of the middle toe in both feet. SHSF anomaly may occur either isolated or associated with other anomalies. In this case, it occurd sporadically without family history and showed an isolated type without any other specific anomalies except both posterior iris synechiae. The karyotype of patient showed 46,XY,t(7p:14q) which has not been reported yet. We reported the case with the review of the associated literatures.