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Case history: A 4-month-old male Shih Tzu dog (Case 1) and an 11-month-old female Devon Rex cat (Case 2) were referred to specialist veterinary hospitals for evaluation of right thoracic lameness and growth abnormality in the distal aspect of the forelimb. Clinical findings: Non-weight-bearing lameness and decreased range of motion were noted in the affected limbs of both cases. Case 1 had a plantigrade stance, and a cleft separation between the first and second digits extending upwards to the distal third of the antebrachium. There was no pain on palpation, and the affected limb was shorter than the contralateral. Radiographic examination revealed cleft separation between metacarpal bones I and II, and carpal bone fusion (I, II, III), and the distal radius ended freely and was attached to the first metacarpal bone. Case 2 had a small cleft medial to metacarpal III. The limb was consistently held in abduction and had marked carpal varus. The limb had never been used for weight bearing. Radiographic examination showed agenesis of metacarpal bone II and separation of metacarpals I and III. The radius and ulna were separated and the radial head did not articulate normally at the elbow, leading to marked elbow incongruity. Diagnosis: Ectrodactyly in both cases. Treatment and outcome: Amputation of the radius followed by ulnocarpal arthrodesis were performed in both cases. Follow-up evaluations up to 1 year (Case 1) and 10 weeks (Case 2) after surgery indicated satisfactory arthrodesis fusion, owner satisfaction, and a good clinical outcome. Clinical relevance: Ectrodactyly is a rare congenital deformity of the forelimb with a heterogeneous character, requiring an individualised treatment plan. These are the first cases reported in the literature of ectrodactyly in small animals that were treated successfully with ulnocarpal arthrodesis. This case series therefore provides evidence in support of this treatment option for this heterogeneous congenital deformity. [ABSTRACT FROM AUTHOR]

Ectrodactyly is a rare congenital limb malformation characterized by a deep median cleft of the hand and/or foot due to the absence of central rays. It could be isolated or depicts a part of diverse syndromic forms. Heterozygous pathogenic variants in the TP63 gene are responsible for at least four rare syndromic human disorders associated with ectrodactyly. Among them, ADULT (Acro-Dermato-Ungual-Lacrimal-Tooth) syndrome is characterized by ectodermal dysplasia, excessive freckling, nail dysplasia, and lacrimal duct obstruction, in addition to ectrodactyly and/or syndactyly. Ophthalmic findings are very common in TP63-related disorders, consisting mainly of lacrimal duct hypoplasia. Absent meibomian glands have also been well documented in EEC3 (Ectrodactyly Ectodermal dysplasia Cleft lip/palate) syndrome but not in ADULT syndrome. We report a case of syndromic ectrodactyly consistent with ADULT syndrome, with an additional ophthalmic manifestation of agenesis of meibomian glands. The proband, as well as her elder sister, presented with congenital cone dystrophy. The molecular investigation was performed in the proband using Whole Exome Sequencing. Family segregation of the identified variants was confirmed by Sanger sequencing. Two clinically relevant variants were found in the proband: the novel de novo heterozygous missense c.931A > G (p.Ser311Gly) in the TP63 gene classified as pathogenic, and the homozygous nonsense pathogenic c.1810C > T (p.Arg604Ter) in the CNGB3 gene. The same homozygous CNGB3 variation was also found in the sister, explaining the cone dystrophy in both cases. Whole Exome Sequencing allowed dual molecular diagnoses: de novo TP63-related syndromic ectrodactyly and familial CNGB3-related congenital cone dystrophy. [ABSTRACT FROM AUTHOR]

Objective: We report the relative usefulness of split hand index (SHI) and ulnar to median (UM) ratio in Hirayama disease (HD) and amyotrophic lateral sclerosis (ALS).Methods: The patients with HD, ALS and matched controls were subjected to evaluation of UM ratio and SHI. Compound muscle action potentials (CMAPs) were recorded from abductor digit minimi (ADM) and first dorsal interosseous (FDI) by stimulating ulnar nerve at the wrist, and abductor pollicis brevis (APB) by stimulating median nerve at the wrist. UM ratio (ADM/APB) and SHI (APB × FDI/ADM) were calculated, and compared. Sensitivity and specificity of SHI and UM ratio in HD and ALS were calculated.Results: Twenty-six HD and 31 ALS patients were included. Twenty-six matched controls for HD and 20 for ALS were also evaluated. The APB amplitude was significantly lower in ALS compared to HD (6.89 ± 2.0 mv vs. 2.13 ± 1.27 mv,p = 0.01). UM ratio <0.86 had a sensitivity of 80.4% and specificity of 86.3% for HD. SH1 ≤ 5.2 had a sensitivity of 82% and specificity of 88.8% for ALS. UM ratio had a poor specificity for ALS (18.9%) and SHI for HD (34%).Conclusion: UM ratio is more sensitive and specific for HD and SHI for ALS patients. [ABSTRACT FROM AUTHOR]

Preferential involvement of C7, C8, T1 level anterior horn cells is a typical feature in Hirayama disease/brachial monomelic amyotrophy (BMMA). There are no clinico-electrophysiological studies to substantiate the peculiar pattern of muscle involvement. Thirty subjects, 10 in each group of BMMA, amyotrophic lateral sclerosis (ALS) and age-matched normal healthy subjects underwent detailed clinical and electrophysiological testing. Results showed that the mean age at evaluation for BMMA and ALS patients was 25.8 ± 3.8 and 51.8 ± 9.5 years, respectively; illness duration was 8.1 ± 5.7 years and 11.14 ± 2.85 months, respectively. Clinically, all BMMA patients had reverse of split hand (RSH) syndrome [abductor digiti minimi (ADM) affected more than abductor pollicis brevis (APB)], while 7/10 ALS patients had classical split hand syndrome (APB affected more than ADM). In BMMA, the compound muscle action potential (CMAP) of APB was preserved but reduced/absent in ADM compared to the ALS group which demonstrated reverse findings. APB/ADM ratio was >0.8 in the BMMA group (>1.4 in 80%), around 1.0 in normal controls (none had >1.4) and <0.8 in ALS (70% having values <0.6). In conclusion, RSH syndrome may provide valuable diagnostic clues to differentiate this relatively self-restricted disease from progressive degenerative disease like ALS. [ABSTRACT FROM AUTHOR]

Focal dermal hypoplasia (FDH) is a rare multisystem disorder characterized by abnormalities in tissues derived from the meso-ectoderm, mainly affecting the skin, eyes, teeth and skeleton. We present the case of a young girl with FDH due to de novo mutation c.1061T>C (p.Leu354Pro) in the PORCN gene, responsible for defects in bone, eyes, skeleton, heart, maxillary and anus/rectum malformation. At birth, an infectious etiology and cutaneous syndromes that produce similar skin lesions were ruled out. Clinical manifestations led to the diagnosis of FDH, subsequently confirmed by genetic studies during the neonatal period. Early diagnosis allows organizing a detailed and personalized follow-up, which makes interventions more effective. This has contributed to satisfactory development to date in our patient. These patients present a host of possible complications requiring the coordinated effort of a multidisciplinary medical team from the start, all coordinated by a pediatrician. [ABSTRACT FROM AUTHOR]

Ectrodactyly is a rare dominant autosomal malformation with variable expression. Herein we report a case early diagnosed by ultrasound at 15 weeks of gestation of isolated ectrodactyly involving the four limbs. The sonographic findings were bilateral split hands and split foot. Diagnosis of typical isolated ectrodactyly was pathologically confirmed. Clinical forms, pathogenesis, differential diagnosis, and early prenatal diagnosis are discussed. [ABSTRACT FROM AUTHOR]