Musculoskeletal abnormalities in neonate equids represent a common condition, which includes angular limb deformities, defective carpal/tarsal bone ossification, contracted limb and mandibular/maxillary prognathism. The present case report described the presentation and surgical management of multiple musculoskeletal abnormalities in a mule foal. A newborn mule foal was presented for several musculoskeletal abnormalities, such as angular deviation from the sagittal plane of both carpal joints, hind limb ligament laxity, and severe mandibular prognathism. Surgical management of mandibular prognathism was then treated through the application of a tension orthodontic wire. Postoperatively, there was a significant improvement in the correction of mandibular malocclusion and no further correction was needed. Management of other anomalies was mainly conservative, with stall rest and exercise limitations, with a considerable improvement in the first month of life. Thus, jaw malformations might be observed also in mule foals, and might be associated with multiple congenital abnormalities. Early recognition, appropriate management, and surgical treatment were essential.

Ulnar club hand is a rare condition of the upper limbs, for which treatment depends on the degree of morphological and functional impairment, correlating with the radiographic classification of Dobyns, Wood, and Bayne. The aim of the present study is to report a case of a 6-year-old male patient, followed up for type III ulnar club hand (total ulnar dysplasia). Despite the initial difficulty of manipulating objects and performing everyday tasks, conservative physical therapy treatment provided strength gain and development of functional skills for daily life. We conclude that patients with type III deformity can be properly managed with rehabilitation although they require outpatient follow-up until skeletal maturity is reached, as dynamic deformities and new functional limitations may lead to need for corrective surgeries.

BACKGROUND: Situs inversus totalis is a rare malposition of organs that typically involves lesions in the respiratory, circulatory, or urinary systems. Cases of congenital hemivertebrae combined with situs inversus totalis are extremely rare and have limited reports.
METHODS: We report a 2.5 years old girl with 2 congenital hemipyramids and complete visceral inversion who ultimately underwent hemilaminectomy.
METHODS: Congenital hemivertebrae combined with situs inversus totalis.
METHODS: The patient underwent hemilaminectomy.
RESULTS: The spinal deformity was corrected.
CONCLUSIONS: For patient with spinal deformities combined with situs inversus totalis, surgery can be an effective treatment method. But we also need to be vigilant about the dysfunction of various systems.

Cri-du-chat syndrome is a rare genetic disorder, due to a deletion of the short arm of chromosome 5 (5p-). Its incidence is ranging from 1/15000 to 1/50000 live births. This was a one-day-old male newborn from a non-consanguineous marriage, the first pregnancy uncomplicated and carried to term with a birth weight of 2295g. Clinical examination revealed: craniofacial dysmorphism with hypertelorism and microcephaly, hypotonia, poor suction and clubfoot more marked on the right, the rest of the examination was unremarkable. During hospitalization, a high-pitched monochromatic cry mimicking a cat\'s meow was observed. The clinical diagnosis was confirmed by fluorescence in situ hybridization, showing a deletion of the short arm of chromosome 5 (5p15.2). The basic malformative work-up came back without any other abnormalities. The association of a high-pitched monochromatic cry with craniofacial dysmorphism in a newborn should indicate the need for cytogenetic study, in particular fluorescence in siti hybridization.

The neurodevelopmental disorder known as Helsmoortel-van der Aa syndrome (HVDAS, MIM#616580) or ADNP syndrome (Orphanet, ORPHA:404448) is a multiple congenital anomaly (MCA) condition, reported as a syndrome in 2014, associated with deleterious variants in the ADNP gene (activity-dependent neuroprotective protein; MIM*611386) in several children. First reported in the turn of the century, ADNP is a protein with crucial functions for the normal development of the central nervous system and with pleiotropic effects, explaining the multisystemic character of the syndrome. Affected individuals present with striking facial dysmorphic features and variable congenital defects. Herein, we describe a novel case series of HVDAS Italian patients, illustrating their clinical findings and the related genotype-phenotype correlations. Interestingly, the cutaneous manifestations are also extensively expanded, giving an important contribution to the clinical characterization of the condition, and highlighting the relation between skin abnormalities and ADNP defects.

Arthrogryposis multiplex congenita (AMC) is an uncommon condition present from birth that is marked by a combination of weakened muscles and multiple joint contractures. We present a case of a 2-year-old boy with AMC, who was born to consanguineous parents in Saudi Arabia. He presented with musculoskeletal abnormalities of all four limbs, including symmetric contractures in multiple joints of the body, bilateral developmental dysplasia of the hip, and vertical talus. Dysmorphic features included low-set ears, chin recession, triangular face, and nevus flammeus on the face. The child also had lactose intolerance, gastritis, inguinal hernia, and right-sided undescended testis. Surgical interventions were planned after a multidisciplinary team discussion. This case report highlights the good prognosis of AMC with all four-limb involvement and the importance of a thorough physical examination and a multidisciplinary approach to the diagnosis and management of AMC.

Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) (MIM#617333) is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability (ID), and dysmorphic facial features due to pathogenic variations in the Bromodomain- and PHD Finger-Containing Protein (BRPF1) (MIM#602410) gene. Herein, we report the first Turkish patients with IDDDFP. Additionally, the patients had hematopoietic disorders such as anemia and thrombocytopenia, which have not been previously described in IDDDFP patients. Genetic testing using Whole Exome Sequencing (WES) revealed a novel heterozygous c.1433G > A; p.W478* (NM_004634.3) pathogenic variant on exon 3 of the BRPF1 gene. The patients demonstrated classical features of IDDDFP such as intellectual disability, developmental delay, ptosis, micro and retrognathia, and dysmorphic facial features, in addition to the anemia and thrombocytopenia. Apart from the variant in BRPF1, no additional genomic changes were detected by WES and chromosomal microarray analysis (CMA). Hopefully, our novel report on the hematopoietic anomalies of our patients due to BRPF1 will expand upon the clinical spectrum of IDDDFP, encourage further studies about BRPF1-hematopoietic system relations, and affect the diagnostic and therapeutic schemes of hematopoietic system disorders.

Infantile hemangiomas (IHs) are the most common pediatric vascular tumors, although their genetic etiology is largely unknown. Congenital capillary malformations (CMs) are associated with known somatic pathogenic variants, including GNAQ, GNA11, PIK3CA, and PIK3R1. Co-occurrence of a facial CM such as port wine stain and IH is not associated with any recognized vascular anomaly syndromes and rarely reported in the literature. We describe a case of a 5-week-old female patient with a large facial CM and extensive IHs of the lower lip, airway, and orbit who presented with airway compromise and responded to propranolol therapy.

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Variations of the brachialis muscle are uncommon in the literature. During regular cadaveric dissection, we observed the unilateral presence of an accessory muscle in the front of the right arm of a female cadaver, taking its origin from the medial aspect of the brachialis and the adjacent intermuscular septum. The muscle belly descended downwards, crossed the neurovascular bundle in the cubital fossa and merged with the fibres of the pronator teres. There is no doubt regarding its significance in the etiogenesis of numerous compression syndromes due to its close topographical relationship with the neurovascular bundle. In our report, we consider the potential developmental process and therapeutic implications of this variation, which can aid surgeons in their strategy and management.