Bronchopulmonary foregut malformation (BPFM) is a rare congenital anomaly characterized by a fistula between an isolated portion of respiratory tissue and the esophagus or stomach. Srikanth et al. reported that BPFMs can be categorized into four groups, and that an unclassified BPFM is extremely rare. Herein, we present an unclassified BPFM group III and IV subtype in a 2-year-old girl. At a gestational age of 36 weeks, a 1535-g female neonate was born as one of the dichorionic diamniotic twins. She had vertebral abnormality, anovestibular fistula, pulmonary artery sling, small right lung, mediastinal shift with dextrocardia, tracheal stenosis, and radial hemimelia. After birth, she was diagnosed with VACTERL association. She exhibited consolidation of the right upper lobe (RUL) in the neonatal period; however, she had no respiratory symptoms and was kept under observation in an outpatient visit. At 24 months, she was urgently admitted with acute pneumonia, and the upper gastrointestinal series revealed the right upper bronchus arising from the lower esophagus. Therefore, she underwent RUL resection. Intraoperatively, the right lung had no lobulations. RUL was ventilated by the esophageal bronchus (BPFM group III); however, the S6 lesion was ventilated by both the normal bronchial system and esophageal bronchus (close to BPFM group IV). The S6 lesion did not satisfy the definition of group IV as it did not have systemic blood supply. Hence, we decided to preserve the S6 lesion to save lung capacity as much as possible. The esophageal bronchus was transected using a 5-mm stapler. Due to lobulation failure, RUL was resected using an electric scalpel and 5-mm staplers along with the demarcation line by ventilation from the normal bronchus. The postoperative course was uneventful, and the patient could regain oral function without pneumonia or respiratory distress. For neonates with repeated consolidation and pneumonia, BPFM must be considered as one of the differential diagnoses. Regarding BPFM treatment, early recognition and imaging are necessary. To determine the resection area of the lung, it is crucial to consider the segment of ventilation from the normal bronchi.

Congenital limb deficiency (CLD) is a group of very rare disorders characterized by substantial hypoplasia or the complete absence of 1 or more bones of limbs. Congenital limb deficiency has a significant physical, clinical, and psychological burden on the affected individuals and their families. This cross-sectional study aimed to describe the prevalence pattern, phenotypic manifestations, and biodemographic factors associated with CLD in a cohort assembled from the Pakistani population from the Northwestern region. Through a prospective cross-sectional study, 141 individuals having 166 limbs with CLD were recruited during 2017-2021. There were 77 (55%) individuals with transverse defects, 61 (43%) with longitudinal defects, and 3 (2%) with Intercalary defects. Among the patients with transverse defects, 52 had terminal amputations and 25 had symbrachydactyly. Among the longitudinal defects, thumb aplasia/hypoplasia was the most common presentation (20 patients), followed by oligodactyly (18), and radial hemimelia (18). Eighty six percent had upper-limb deficiencies, 83% had unilateral deficiencies, and 92% were sporadic in nature. The parental consanguinity was observed in 33% individuals, and 79% cases had an isolated presentation which may be indicative of the substantial role of nongenetic factors in the etiology of CLD. This study demonstrates marked heterogeneity in CLD subtypes in the involvement of limbs and associated variables. There is a need to establish a national registry for CLD, molecular genetic diagnosis, and multidisciplinary medical and social rehabilitation services for these individuals.

Ulnar hemimelia is a very rare skeletal abnormality characterized by the total or partial absence of the ulna. It is reported to occur in approximately 1 per 150,000 live births. Some shortening of the forearm, radial bowing, and tendency of the hand to drift to the ulnar side of the wrist usually accompany ulnar hemimelia. Other skeletal anomalies such as humeroradial synostosis, radial head dislocation, carpal or metacarpal coalition, and digital abnormalities may also be seen in cases of ulnar hemimelia. The patients may be asymptomatic in the presence of an isolated mild ulnar deficiency. On the other hand, cases of prominent ulnar deficiency accompanied by complex upper limb abnormalities leading to severe disability may also be observed. We herein present four patients with varying degrees of ulnar hemimelia. Our first case had an isolated ulnar hemimelia, whereas the other three had additional upper limb abnormalities of different types.