A case report on penile duplication: A rare congenital anomaly

Introduction: Penile duplication or penile diphallia is a rare congenital anomaly that is mainly associated with renal, anorectal or vertebral anomalies, that is, spina bifida. This condition was first described by Johannes Jacob Wecker in 1609 in Italy. Problem: Its incidence is extremely rare, about one in millions. The aetiology of this condition is unknown up till now; however, it is considered that defect of genital tubercle leads to the formation of diphallia. Methods: The condition is diagnosed clinically, and management depends on the appearance of genitalia and the associated anomalies as well as after taking into account the social and ethical considerations. Most of the time, management involves surgical incision of the non-functioning penis. Results: In this case report, a child of age 10 years presented with double penis since childhood. The child was evaluated clinically and radiologically for any other associated abnormalities, and his non-functional urethra was surgically removed. Level of evidence: Level IV

Neuroradiological findings in Alagille syndrome

Alagille syndrome (ALGS) is a multisystemic disease caused by mutations in genes of Notch pathway, which regulates embryonic cell differentiation and angiogenesis. Clinically, ALGS is characterized by cholestasis, cardiac defects, characteristic facial features, skeletal and ophthalmologic abnormalities. The aim of this review is to illustrate neuroradiological findings in ALGS, which are less well-known and prevalent, including cerebrovascular anomalies (such as aneurysms, dolichoectasia, Moyamoya syndrome and venous peculiarities), Chiari 1 malformation, craniosynostosis, intracranial hypertension, and vertebral anomalies (namely butterfly vertebra, hemivertebra, and craniocervical junction anomalies). Rarer cerebral midline malformations and temporal bone anomalies have also been described.

Co-Existence of a Rudimentary Non-Communicating Horn with a Unicornuate Uterus in Association with 2 Components of the VACTERL Association: A Case Report

The prevalence of congenital uterine anomalies has been reported as 6.7% in the general population. The unicornuate uterus accounts for 2.4-13% of all Mullerian anomalies and has a prevalence of 1:1000. A unicornuate uterus may be present alone or with a rudimentary horn and 75-90% of rudimentary horns are non-communicating. A pregnancy in the rudimentary horn may lead to uterine rupture, haemoperitoneum with a high risk of maternal mortality. The association of a unicornuate uterus with a non-communicating uterine horn to the VACTERL association of defects (vertebral anomalies, anorectal malformations, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, renal anomalies and limb defects) has been described only twice in the literature. We report a patient who was born with an extra thumb and had a trachea-bronchial remnant with oesophageal stenosis that were both operated on earlier, and they were associated with a non-communicating rudimentary uterine horn. To the best of our knowledge, this is the third case reported in the literature of a VACTERL association to a unicornuate uterus with a non-communicating functional rudimentary horn. Given the high risk for the patient if pregnant an early diagnosis is paramount. This case highlights the importance of considering Mullerian defects in the young patient born with components of the VACTERL association.

The association of lumbosacral transitional vertebral anomalies with acetabular dysplasia in adult patients with hip-spine syndrome

Aims Some patients presenting with hip pain and instability and underlying acetabular dysplasia (AD) do not experience resolution of symptoms after surgical management. Hip-spine syndrome is a possible underlying cause. We hypothesized that there is a higher frequency of radiological spine anomalies in patients with AD. We also assessed the relationship between radiological severity of AD and frequency of spine anomalies. Methods In a retrospective analysis of registry data, 122 hips in 122 patients who presented with hip pain and and a final diagnosis of AD were studied. Two observers analyzed hip and spine variables using standard radiographs to assess AD. The frequency of lumbosacral transitional vertebra (LSTV), along with associated Castellvi grade, pars interarticularis defect, and spinal morphological measurements were recorded and correlated with radiological severity of AD. Results Out of 122 patients, 110 (90.2%) were female and 12 (9.8%) were male. We analyzed the radiographs of 122 hips (59 (48.4%) symptomatic left hips, and 63 (51.6%) symptomatic right hips). Average age at time of presentation was 34.2 years (SD 11.2). Frequency of LSTV was high (39% to 43%), compared to historic records from the general population, with Castellvi type 3b being the most common (60% to 63%). Patients with AD have increased L4 and L5 interpedicular distance compared to published values. Frequency of pars interarticularis defect was 4%. Intraclass correlation coefficient for hip and spine variables assessed ranged from good (0.60 to 0.75) to excellent (0.75 to 1.00). Severity of AD did not demonstrate significant correlation with frequency of radiological spine anomalies. Conclusion Patients with AD have increased frequency of spinal anomalies seen on standard hip radiographs. However, there exists no correlation between radiological severity of AD and frequency of spine anomalies. In managing AD patients, clinicians should also assess spinal anomalies that are easily found on standard hip radiographs. Cite this article: Bone Joint J 2021;103-B(8):1351–1357.

A rare cause of respiratory distress in pediatric palliative care: Thoracic Duplication Cyst

Gastrointestinal duplication cysts are actually rare congenital anomalies that can accompany various anomalies and are most frequently seen in the small intestine. Gastrointestinal duplication may accompany anomalies such as vertebral anomalies, spinal cord malformations. Depending on the location, symptoms such as chest pain, shortness of breath, cough, asthma-like symptoms, hemoptysis, cyanosis, vomiting, difficulty swallowing, weight loss, hematemesis and melena can be observed. To our knowledge, we report a rare case that has not been reported in pediatric palliative care. We present a case operated for diaphragmatic hernia in the neonatal period. A 3-month-old patient with respiratory distress who was followed up in pediatric palliative care was reoperated and pathologically diagnosed as gastrointestinal duplication cyst. Thoracic cysts can have a wide variety of etiology. The correct diagnosis can be made by performing further examinations and appropriate surgery.

Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis

Chondrodysplasias with multiple dislocations form a group of severe disorders characterized by joint laxity and multiple dislocations, severe short stature of pre- and post-natal onset, hand anomalies, and/or vertebral anomalies. The majority of chondrodysplasias with multiple dislocations have been associated with mutations in genes encoding glycosyltransferases, sulfotransferases, and transporters implicated in the synthesis or sulfation of glycosaminoglycans, long and unbranched polysaccharides composed of repeated disaccharide bond to protein core of proteoglycan. Glycosaminoglycan biosynthesis is a tightly regulated process that occurs mainly in the Golgi and that requires the coordinated action of numerous enzymes and transporters as well as an adequate Golgi environment. Any disturbances of this chain of reactions will lead to the incapacity of a cell to construct correct glycanic chains. This review focuses on genetic and glycobiological studies of chondrodysplasias with multiple dislocations associated with glycosaminoglycan biosynthesis defects and related animal models. Strong comprehension of the molecular mechanisms leading to those disorders, mostly through extensive phenotypic analyses of in vitro and/or in vivo models, is essential for the development of novel biomarkers for clinical screenings and innovative therapeutics for these diseases.

Atypical Presentation of Goldenhar Syndrome

Introduction In 1952 Goldenhar described a case with triad of pre auricular tags, mandibular hypoplasia and ocular (epibulbar) dermoid and described the case as Goldenhar Syndrome. Case Report A case of Goldenhar Syndrome without ocular involvement is presented. Discussion Goldenhar syndrome is also known as oculoauriculovertebral dysplasia due to presence of additional vertebral anomalies. Exact etiology of this disease is not known. Most of the cases are sporadic, though autosomal recessive/dominant and multifactorial inheritance has also been suggested. Chromosomal analysis shows no abnormalities.

Exome Sequencing Reveals De Novo Variants in Congenital Scoliosis

Congenital scoliosis (CS) is a lateral curvature of the spine characterized by the presence of vertebral anomalies. Pathogenic genetic variants in the TBX6 gene are one of the causes of CS. However, since many clinically diagnosed cases of CS are without known TBX6 gene variations, this study aims to uncover new genes related to disease susceptibility of CS by exome sequencing (ES). This study employed ES in a cohort of 5 Japanese patients with CS and their healthy parents or a sister for a total of 16 samples among 5 families. Variant interpretation was performed using SIFT, PolyPhen-2, Mutation Taster, and CADD. Four de novo variants were identified by ES and confirmed by Sanger sequencing: 1 frameshift variant (SHISA3) and 3 missense variants (AGBL5, HDAC4, and PDE2A). ES also uncovered 1 homozygous variant in the MOCOS gene. All of these variants were predicted to be deleterious by SIFT, PolyPhen-2, Mutation Taster, and/or CADD. The number of de novo variants identified in this study was exactly what would be expected by chance. Additional functional studies or gathering matched patients using Gene Matcher are needed.

Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature

Pure distal duplications of 7q have rarely been described in the medical literature. The term pure refers to duplications that occur without an accompanying clinically significant deletion. Pure 7q duplications of various segments have previously been reported in the literature; however, pure distal 7q duplications have only been reported in 21 cases. Twenty of these earlier reports described patients who were identified via karyotype and 1 recently by microarray. Cases have also been reported in genomic databases such as DECIPHER and the University of California Santa Cruz genome browser. We have reviewed 7 additional cases with distal 7q duplications from these databases and compared them to 7 previously reported distal 7q duplication cases to uncover common features including global developmental delay, frontal bossing, macrocephaly, seizures, kyphoscoliosis/skeletal anomalies, and microretrognathia/palatal anomalies. In this case, we describe a 4-year-old boy with a 30.8-Mb pure duplication of 7q32.1q36.3. Newly reported features associated with this duplication include intermittent dystonic posturing, increased behavioral irritability, eosinophilic esophagitis, segmental vertebral anomalies, and segmental intermittent limb cyanosis. We highlight the importance of using publicly available databases to describe rare genetic syndromes and to better characterize the features of pure distal 7q duplications and further postulate that duplication of this region represents a recognizable macrocephalic neurodevelopmental syndrome.