Postaxial polydactyly type B of the hand can be excised in the office with local anesthesia or in the operating room under general anesthesia. Existing studies have not described the cost difference between these treatments. We compared charges, reimbursements, and outcomes of office and operating room excision. All cases of postaxial polydactyly type B excision at a children's hospital from fiscal year 2018-2023 were included. Independent t tests and Fisher exact tests were performed to compare the charges and outcomes of office and operating room excisions. Random-effects models were used to compare differences in reimbursements since these data were obtained as summary statistics (mean [SD]) by fiscal year. Of 620 total patients, 30 (4.8%) underwent operating room excisions (22 bilateral and 8 unilateral), and 590 (95%) had office excisions (346 bilateral and 244 unilateral). Average total charges were 78% and 84% less for bilateral and unilateral excisions, respectively, in the office than in the operating room. Insurance companies paid $7800 more for bilateral operating room excisions and $7600 more for unilateral operating room excisions. Surgeons received $2300 more for bilateral operating room excisions and $1300 more for unilateral operating room excisions. The treatment strategy did not impact outcomes. Given the cost efficacy and safety of office excision, operating room excision should be limited to patient-specific factors requiring general anesthesia. Prognosis IIb.

Finding abnormalities in a fetus by prenatal testing during pregnancy is a common reason why parents choose to terminate a pregnancy. A malformations surveillance program of all births at a tertiary center in Boston was used to identify each elective termination because of a malformation detected prenatally. A severity scale of malformations was used: lethal (anencephaly), severe-handicapping (Down syndrome; myelomeningocele), moderate-fixable (omphalocele) and mild (postaxial polydactyly, type B). Demographic characteristics and the findings in prenatal testing were recorded. Six hundred and sixty-nine elective terminations because of fetal abnormalities were identified. A destructive procedure (dilation and evacuation; D&E) was the primary method used to end the pregnancy. The gestational age at the time of termination was 18 to 19 weeks. The two most common sequences of events were: (1) imaging by ultrasound established the diagnosis; (2) imaging by ultrasound led to amniocentesis which established the diagnosis. Ninety-four percent of the abnormalities were either lethal or severe-handicapping. The discovery of a fetal abnormality was a surprise to 98% of the parents. Single women differed from married women in being younger, less well-educated, less likely to have health insurance, and more likely to terminate a pregnancy with moderate-fixable malformations.

This case report examines a newborn with bilateral postaxial polydactyly type B, delivered by a 42-year-old mother with a history of third-degree consanguinity. The mother, having had no prior live births and one abortion, presented at 39 weeks gestation. The absence of prenatal care is noted, with its potential impact on prenatal diagnosis not assessed. The newborn, a healthy girl, weighed 3400 g with an Apgar score of 9/10. Radiographic and physical examination revealed vestigial sixth digits with rudimentary phalanges, influencing the surgical approach. This report underscores the importance of genetic counseling in cases of consanguinity and illustrates the multidisciplinary strategy necessary for managing polydactyly, from surgical considerations to genetic evaluation.

Simple postaxial polydactyly (type B) is a common congenital hand malformation often treated by suture or clip ligation. We present a case series of patients with simple postaxial polydactyly treated by surgical excision using local anesthesia in an office setting. The procedure was performed on 78 digits in 48 children with a mean age of 10.2 weeks. There were no intraoperative or early postoperative complications. A follow-up by phone interview was performed at an average of 3.2 years postoperatively. All patients were reported to be pain-free and have normal function without a perceived range of motion deficits. All parents selected the highest level of satisfaction regarding cosmetic outcomes and overall experience with the procedure. These results demonstrate that an office-based surgical excision is a safe, effective, and economical treatment option and has developed into our standard of care for this common condition.

Introduction. Pituitary differentiation involves a large number of transcription factors. In particular, BMP4 expression is fundamental for pituitary gland commitment from the ventral diencephalon, suppressing Shh expression in Rathke's pouch. Pathogenic variants in BMP4 are reported in the literature with a broad phenotypic spectrum, including pituitary and brain malformations. Case Presentation. A five-year-old girl came to medical attention following a mild cervical trauma with onset of cervical pain. On clinical examination at birth, postaxial polydactyly type B of the left hand was observed and removed at 10 months of age. A cervical radiography was performed, and a suspicion of craniocervical junction malformation was made. A magnetic resonance imaging of the cervical spine was made, showing an ectopic posterior pituitary, associated with dysmorphism of the craniocervical junction. The anthropometric parameters were pubertal Tanner stage 1, weight 16 kg (z-score: -1.09), height 107 cm (z-score: -0.76), and BMI 14 kg/m2 (z-score: -0.92). Normal hormonal assessment was detected. Genetic analysis via next generation sequencing showed a novel de novo heterozygous variant (c.277 G > T, p.Glu93 ∗ ) in exon 3 of BMP4. Discussion. We described a novel mutation in BMP4, resulting in ectopic posterior pituitary with normal hormonal assessment, associated to craniocervical junction dysmorphism and limb anomaly. It is important to monitor patient's growth and puberty and to screen the onset of symptoms related to the deficiency of one or more anterior as well as posterior pituitary hormones.