Goldenhar syndrome is a multifactorial congenital anomaly that involves structures that develop from the first and second pharyngeal arches. In this report, we present a clinical case of a 3-month-old male infant diagnosed with Goldenhar syndrome, born to a known retro-viral infected mother who was receiving antiretroviral therapy. The baby was brought to the hospital with complaints related to upper respiratory system. On examination, he had typical signs and symptoms of Goldenhar syndrome: an asymmetrical face with small left facial bones, a low-set ear, left anophthalmia, an atretic left ear with only small ear appendages, and a complete cleft lip and palate. His family had no history of birth defects or exposure to the known causes of birth defects. The baby was treated for severe community-acquired pneumonia, the diagnosis for his current presentation to our hospital, and he is now on multidisciplinary follow-up for possible medical and surgical management of the Goldenhar syndrome.

Pituitary stalk interruption syndrome is a rare, congenital abnormality. Early identification and treatment can improve patient prognosis and quality of life and prevent adverse effect on growth and development. The patient described is an 8-year-old child with a history of short stature.

Congenital pouch colon (CPC) is a rare congenital abnormality, in which a pouch-like dilatation partially or completely replaces the colon, creating a fistula with the urogenital. Congenital colonic pouch is an extremely rare congenital disease mainly reported in India, and to date there are no reported cases in Lebanon. In this paper, we present a case of full-term male neonate diagnosed with a congenital colon pouch in Lebanon. A full-term neonate presented with imperforate anus, abdominal distention, and vomiting. Diagnostic assessments revealed a well-encapsulated mass compressing the intestines and ureter. Surgical intervention identified a type I CPC with a meconium-filled pouch directly connected to the small intestine, and an absent ileocecal valve, prompting an ileostomy. Following the surgery, no postoperative complications were noted. Early imaging can help address the diagnosis to start the appropriate management, plan for surgery to prevent the development of a megacolon and therefore, perforation. The objective is to be aware and consider congenital colonic pouch diagnosis after encountering newborns with such clinical presentation in order to direct clinical investigations toward the diagnosis and treatment of the case early, thus reducing the risk of complications and improving the patient\'s quality of life.

This report describes the case of a 32-year-old patient admitted to the emergency room for polytrauma following a suicide attempt. During the clinical and radiographic examination of the right elbow, Patella cubiti (PC) was fortuitously discovered. This rare anatomical anomaly raises questions about its origin and its impact on the patient\'s clinical presentation. Despite the generally asymptomatic nature of PC, its association with severe polytrauma in this case underlines the importance of comprehensive radiographic evaluation when managing traumatic injuries. This clinical case contributes to our understanding of this rare anatomical variation and underscores the need for further research on its clinical implications as well as therapeutic management.

A 47-year-old man with a history of transposition of the great arteries after a Mustard atrial switch procedure and prior inferior vena cava filter placement for venous thromboembolism presented for removal before being listed for orthotopic heart transplantation in anticipation of cardiopulmonary bypass cannulation. The filter was retrieved using a right transjugular approach without disruption of his existing atrial baffle. Contingency planning in the event of unsuccessful baffle navigation included a transfemoral everted filter approach. A thorough understanding of unique patient anatomy and multidisciplinary team approach is critical to safe procedural intervention in patients with congenital cardiovascular anomalies.

UNASSIGNED: Guanidinoacetate methyltransferase deficiency (GAMT) is an autosomal recessive inborn error of metabolism. A condition that results from a pathogenic variant in the GAMT gene that maps to 19p13.3. The prevalence can be estimated to be up to 1:2,640,000 cases; countries such as Saudi Arabia could have a higher prevalence due to high consanguinity rates. The clinical manifestations that a patient could obtain are broad and start to manifest in the patients\' early childhood years.
UNASSIGNED: A thorough review of case reports in January 2022 was conducted. The retrieved literature was screened for demographic data. Patients of all ages were included. Qualitative variables were described as number and percentage (%), and quantitative data were described by the mean and standard deviation. In bivariate data, Chi-square test (χ2) was used and t-test for nonparametric variables.
UNASSIGNED: Gender distribution was 53% of males and 47% females. Reported age ranged from 8 to 31 months. At the age of onset, 50% of the cases were infants, 28% were toddlers, and 15% were children, concluding that 79% of the reported cases developed symptoms before 5 years old. 68% of the cases developed generalized seizures throughout their life. 84% of the cases expressed a form of developmental delay. 43% of the cases had intellectual disabilities and mental retardation that affected their learning process; most cases required special care. 23% of the affected cases were of consanguineous marriages, and 7% had affected relatives.
UNASSIGNED: We described four novel case reports, the first to be reported in Saudi Arabia. Seizure was a leading finding in the majority of the cases. Developmental delay was broadly observed. Intellectual delay and language impairments are primary hallmarks. Further understanding and early diagnosis are recommended. Premarital testing of neurogenetic diseases using whole-exome sequencing is probably a future direction, especially in populations with high consanguinity rates.

Brachydactyly is a genetic condition leading to shortened or absent digits in hands or feet. It can occur independently or as part of syndromes. This case focuses on Brachydactyly type B, the rarest form. An 8-month-old from the Philippines was referred due to a missing third toe. Examination revealed a hypoplastic left third toe. X-rays confirmed the finding. Treatment options were discussed, including conservative therapy and follow up. Diagnosis involved history, examination, and imaging. Prenatal diagnosis is limited for isolated cases but useful for syndromic forms if a family mutation is known. Prognosis varies depending on the severity and associated syndromes. Currently there is no definitive treatment; management involves genetic counseling and therapy. Due to limited cases, Type B is underreported, highlighting the need for more research into its genetics.

Persistent double dorsal aorta is an extremely rare congenital anomaly, with only 13 cases published to date. The objective of this study is to present this embryological variant as observed in the abdominal aorta of a patient. The anatomical description was written up on the basis of a review of electronic medical records and imaging exams. The patient in this case was an elderly 79-year-old man who presented at emergency with pain at rest in the left lower limb. He was admitted and laboratory tests and imaging exams were ordered. The variation was an imaging finding observed on angiotomography, consisting of complete separation of the abdominal aorta into two portions - a ventral and a dorsal, with different calibers - at the level of the third lumbar vertebra. There was also an anomalous origin of the inferior mesenteric artery.

Limb body wall complex (LBWC), also known as body stalk anomaly, is a rare and lethal disorder of the anterior abdominal wall. It is characterized by a severe combination of congenital malformations in the fetus, including, abdomino- and/or thoracoschisis, exencephaly/encephalocele, limb deformities, and facial clefts. Short umbilical cord, abdominal placental attachment, and spinal anomalies are among other manifestations of this disorder. The cause of LBWC is still unknown. The main hypotheses include embryonic dysplasia, early amniotic rupture, and vascular accident during embryonic development. We present a case of LBWC that was detected prenatally on ultrasound (USG) imaging and later confirmed postnatally in a Rh-negative mother at the menstrual age of 14 weeks.

Polydactyly is a common congenital malformation of the hand and foot characterized by an extra digit or duplication of digits. Polydactyly can present as preaxial, complex, or postaxial types. It has various presentations, and it can be an isolated anomaly or part of other diseases or syndromic conditions. Incidences are more common in European and Asian descent. The first line of treatment commonly practiced is surgery to create an aesthetically normal functioning hand. In this report, we present a case of bilateral hand polydactyly in a 2-year 6-month-old boy of Asian descent. No other abnormalities or malformations were observed elsewhere in his body. He is otherwise a healthy boy with no family history of malformations. The pattern is not consistent with any syndromic disease. He subsequently underwent surgical resection of the extra digits and a follow-up review showed normal function of the hands without contracture and other complications of the surgical site.