Context: The association between fibular dimelia and mirror polydactyly of the foot is considered to be a very rare lower-limb abnormality. On the other hand, VACTERL is an acronym for a nonrandom association of congenital anomalies for which the etiology is still poorly understood.
Case Report: The patient was a seven-month-old white girl whose mother had used misoprostol in the second month of pregnancy to induce abortion. On clinical evaluation, she was small for her age and presented hypotonia, anteverted nares, long philtrum and carp-like mouth. Her left hand had a reduction defect, with absence of the extremities of the second, third and fifth fingers and camptodactyly of the fourth finger. The ipsilateral lower limb presented significant shortening, especially rhizomelic shortening. Her left foot had a mirror configuration with seven toes and no identifiable hallux. The pelvis was hypoplastic. Esophageal atresia with tracheoesophageal fistula and imperforate anus were detected during the neonatal period. Abdominal ultrasound identified agenesis of the right kidney and left pyelocaliceal duplication. Radiographic evaluation on the left side showed iliac and femoral hypoplasia, absence of the tibia with a duplicated fibula and seven metatarsals and toes with no identifiable hallux on the foot. Echocardiography demonstrated an atrial septal defect. Based on the literature, we believe that the spectrum of malformations presented by our patient may be related to the vascular disruptive effect of the misoprostol. However, we cannot rule out the possibility that this association might simply be a coincidence.
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http://dx.doi.org/10.1590/s1516-31802010000200011 | DOI Listing |
Int J Surg Case Rep
October 2023
Paley Middle East Clinic, United Arab Emirates.
Introduction And Importance: We present a case of Congenital fibular dimelia or fibula duplication with tibial hypoplasia, talar duplication and diplopodia with two complete pre-axial rays. This association has not been published in the literature to our knowledge. We discuss the unique features and surgical management of this rare condition.
View Article and Find Full Text PDFJ Hand Surg Asian Pac Vol
August 2022
Institute for Research and Rehabilitation of Hand & Department of Plastic Surgery, Govt Stanley Medical College & Hospital, Chennai, India.
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.
View Article and Find Full Text PDFClin Dysmorphol
July 2022
Department of Plastic Surgery, Vivalia - Cliniques du Sud-Luxembourg, Arlon, Belgium.
Introduction: 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.
View Article and Find Full Text PDFJ Pediatr Orthop B
November 2017
aDepartment of Orthopedic Surgery, Cellular and Developmental Biology and Pediatrics, SUNY Upstate Medical University, Syracuse, New York bUniversity of Texas Southwestern Medical Center, Texas Scottish Rite Hospital for Children, USA cSchool of Medicine, Medical Sciences and Nutrition, Institute of Medical Sciences, University of Aberdeen, Aberdeen, Scotland.
Genet Couns
November 2012
Zekai Tahir Burak Maternity Teaching Hospital, Division of Neonatology, Ankara, Turkey.
Ulnar dimelia or commonly called mirror hand is a rare congenital anomaly of upper extremity characterized by duplication of ulna, absence of the radius with symmetrical polydactyly. This anomaly may be associated with shoulder dislocation, fibular dimelia, idiopathic scoliosis, cirrhosis, pyloric hypertrophy or polycystic kidney. We report a new case of this rare congenital anomaly which was not associated with any other malformation.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!