Sirenomelia is a rare syndrome in which the infant is born with the legs fused from the pelvis to the feet. Sirenomelia is often fatal in the neonatal period because of multiple other anomalies. The feet may be absent; if present, they are often splayed outward or face backward. There are no case reports of any patient with this syndrome who has been able to walk after separation of the legs.
The authors report on their patient with sirenomelia who was born with the feet facing backward but otherwise normal-appearing hips and thighs and no other anomalies that would lead to fatality in the near future. After preoperative tissue expansion, the authors performed separation of the legs with through-knee amputations, utilizing a vascularized flap from the lower part of the legs based on the sciatic vessels for coverage of the perineum. There was no need for skin grafts or dermal matrices and the patient was referred to physical therapy after recovery from surgery in an attempt to allow her to ambulate.
The patient began to ambulate on her stumps early after surgical repair and is now walking with stubby prostheses. Her other medical issues have remained stable and nonproblematic.
Selected patients with sirenomelia may be able to walk after separation of the legs, depending on the status of other congenital differences as well as the status of the legs when separated. Careful workup with multidisciplinary planning of overall care as well as surgical care is essential.

Laurin-Sandrow syndrome (LSS) is an extremely rare syndrome of mirror hand and leg with less than 20 cases reported in literature. The syndrome has been attributed to a mutation in the MIPOL-1 (mirror-image polydactyly) gene located on locus 14q13.3-q21 coding for CCDC193 (coiled-coli domain containing 193) protein. It is characterised by limb, facial and central nervous system anomalies with the most constant being fibular dimelia with fibular ray duplication, polydactyly with secondary deformities of fixed equinus, knee joint instability and flexion deformity. It is associated less frequently with ulnar dimelia, thumb aplasia/hypoplasia, ulnar ray duplication, symbrachypolydactyly, \'rosette\' hands, facial dysmorphism like hypertelorism, broad columella and flat nose, CNS anomalies like aplasia/hypoplasia of corpus callosum, hydrocephalus and muscular dystonia. We report a 2-year-old male child with LSS and perform a literature review to expound on this rare syndrome. Level of Evidence: Level V (Therapeutic).

BACKGROUND: Laurin-Sandrow syndrome also known as tetramelic mirror-image polydactyly is a rare congenital disorder characterized classically by polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella) often associated with ulnar and/or fibular duplication. As a pathologic entity, it is heterogeneous, the patients displaying a variety of symptoms. This review aims to analyze the different aspects of the condition, such as clinical findings and methods of treatment to summarize the principal features of Laurin-Sandrow syndrome.
METHODS: The review is based on searches on PubMed, Web of Science and Researchgate of the following terms: \"Laurin-Sandrow syndrome\", \"mirror hands\", \"mirror feet\", \"tetramelic mirror-image polydactyly\", \"fibular dimelia\" and \"ulnar dimelia\". Clinical cases, reviews and original articles were included.
RESULTS: As a consequence of our findings, we suggest a modification of the Al-Qattan classification system for Mirror Hand-Multiple Hand Spectrum.
CONCLUSIONS: Even though it has an extremely low incidence, a thorough understanding of the syndrome enables the surgeon to choose the appropriate treatment with the ultimate goal to improve the patient\'s life quality.

This paper reviews the plausible etiological mechanisms, clinical features, preoperative analysis, and documented modern-day craniopagus parasiticus surgical separation attempts as well as an historical review of the few cases documented in the literature.
We describe the successful separation of a 28-week preterm newborn from its parasite sibling twin bearing lethal congenital anomalies associated to Cantrell\'s pentad and sirenomelia. Description of the case, plausible explanations on the mechanisms of conjointment along with the associated congenital abnormalities of the deceased twin are examined along with an historical revision of craniopagus parasiticus and their separation attempts with special attention to the previously undocumented attempt of the Dominican CP separation surgery by Lazareff et al. RESULTS: The use of the deceased twin cranial vault tissues (skin, bone, and duramater) as an autologous implant due to the identical genetical profile served to remodel and close the skull of the surviving twin with good esthetic results and no tissue rejection. To our knowledge, this is the youngest preterm set of craniopagus parasiticus separated in an emergency fashion with good functional and esthetic outcome.
Craniopagus parasiticus is an infrequent subvariant of this rare form of twin conjointment which may require urgent separation due to the associated malformations of the parasitic twin; therefore, the fact that both siblings are genetically identical may prove as an advantage to use duramater, bone, and soft tissues from the parasitic twin as ideal grafts for covering the resultant defect after the separation has been performed.

The purpose of this survey in Belgium and the Netherlands was to assess treatment variation in glenohumeral osteoarthritis between experienced and less experienced orthopedic surgeons, and to investigate perioperative treatment after shoulder arthroplasty in a large group of orthopedic surgeons. Orthopedic surgeons specialized in shoulder surgery were invited to complete a survey between November 2013 and February 2015. Seventy-one percent of the approached surgeons com-pleted the survey. Less experienced surgeons (< 6 years) and surgeons from the Netherlands find patient characteristics (e.g. smoking p=0.01) more relevant than more experienced surgeons (≥ 6 years) and surgeons from Belgium. Less experienced surgeons will less likely (p=0.001) perform resurfacing arthroplasty compare to experienced surgeons. The less and the experienced surgeons use similar indications for a reverse shoulder arthroplasty regarding age limit and cuff arthropathy without osteoarthritis. Less experienced surgeon will more likely (p=0.003) prescribe a low molecular weight heparin during the hospital stay after a shoulder arthroplasty. In this survey, we found a decrease in the use of resurfacing arthroplasty and a strong increase in the use of reverse shoulder arthroplasty. Besides, there is little consensus concerning pre-operative planning, patient characteristics, surgical technique, and patient reported outcome measures. Level of evidence: IV.

BACKGROUND: Little is known about pregnancy rates and outcome in women with motoric disabilities like cerebral palsy (CP) and even less in phocomelia.
OBJECTIVE: To show complications and psychosocial issues in relation to pregnancy burdened by impaired mobility in CP and phocomelia.
METHODS: We present an overview of the pregnancy outcome in two cases of sisters with cerebral palsy and phocomelia. We show complications and psychosocial issues in relation to pregnancy burdened by impaired mobility. Both sisters had a successful pregnancy outcome.
CONCLUSIONS: There is a need to increase awareness, education, support, and advocacy in order to optimize pregnancy course and outcome in women with CP and phocomelia.

We present a case of sirenomelia diagnosed in the first trimester of pregnancy. The ultrasound examination showed fused lower extremities and an anechoic structure in the lower abdomen that is clue in the early diagnosis. The postmortem study showed the existence of a single umbilical artery (vitelline artery), with an origin in the abdominal aorta. This finding not only explained the presence of a vascular steal with subsequent underdeveloped of pelvic organs, but also differentiated this condition from caudal regression syndrome.

To determine the key sonographic features for the diagnosis of sirenomelia in the first trimester of pregnancy.
Cases of sirenomelia from several prenatal diagnosis centers were retrospectively identified and reviewed. The diagnosis was established through the detection of fused lower limbs. Additional sonographic findings were also noted.
A total of 12 cases were collected. The most striking sonographic finding was the detection of malformed lower limbs, which appeared to be fused and in an atypical position. Nuchal translucency thickness was mildly increased in three cases (25%). An abdominal cyst, representing the dilated blind-ending bowel, was noted in seven cases (58%). Color flow imaging detected a single umbilical artery in six cases (50%) and the associated intra-abdominal vascular anomalies in three cases (25%). No cases of aneuploidy were detected. The pregnancy was terminated in nine cases (75%) and intrauterine demise occurred in the remaining three cases (25%).
The sonographic detection of abnormal lower limbs or an intra-abdominal cyst located laterally during the first-trimester scan may be warning signs of sirenomelia. This should prompt a detailed examination of the fetal lower body and intra-abdominal anatomy, including the main abdominal vessels, in order to look for additional confirmatory findings.

Background: Sirenomelia is a lethal congenital anomaly, presenting with fusion of lower extremities and malformed perineum. The pathogenesis is unclear, and \"defective blastogenesis\" is the proposed mechanism. Chlamydia trachomatis (CT) is an obligate intracellular pathogen which reportedly invades placenta and may result in fetal demise. It has documented cytopathogenic effects, specifically, cellular disruption, tissue dysgenesis, and genomic instability.Case report: An infant with sirenomelia was born as a product of 30 weeks of pregnancy, which was normal except for a persistent maternal CT infection. The infant expired shortly after birth.Conclusion: Fetal invasion by CT, conceivably, may induce structural anomalies, such as sirenomelia by virtue of its cytopathic effects. We intend to draw attention to such a possibility by reporting this case. This association, however, is speculative and more cases of sirenomelia with CT positive mothers need to be described in order to make definite conclusions about such a relationship.

Split hand/foot malformation (SHFM) is a group of congenital skeletal disorders which may occur either as an isolated abnormality or in syndromic forms with extra-limb manifestations. Chromosomal micro-duplication or micro-triplication involving 17p13.3 region has been described as the most common cause of split hand/foot malformation with long bone deficiency (SHFLD) in several different Caucasian and Asian populations. Gene dosage effect of the extra copies of BHLHA9 gene at this locus has been implicated in the pathogenesis of SHFLD.
The proband was a female child born to non-consanguineous parents. She was referred for genetic evaluation of bilateral asymmetric ectrodactyly involving both hands and right foot along with right tibial hemimelia. The right foot had fixed clubfoot deformity with only 2 toes. The mother had bilateral ectrodactyly involving both hands, but the rest of the upper limbs and both lower limbs were normal. Neither of them had any other congenital malformations or neurodevelopmental abnormalities. Genetic testing for rearrangement of BHLHA9 gene by quantitative polymerase chain reaction confirmed the duplication of the BHLHA9 gene in both the proband and the mother.
We report the first Sri Lankan family with genetic diagnosis of BHLHA9 duplication causing SHFLD. This report along with the previously reported cases corroborate the possible etiopathogenic role of BHLHA9 gene dosage imbalances in SHFM and SHFLD across different populations.