ABSTRACT
OBJECTIVE: To present the prenatal sonographic features and genomic spectrum of pregnancies with fetal Bardet-Biedl syndrome (BBS). METHODS: This was a retrospective study of 11 cases with BBS diagnosed by prenatal ultrasound and confirmed by genetic testing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular testing sequencing results, and pregnancy outcomes. RESULTS: All cases had unremarkable first-trimester ultrasound scans without reporting limb malformations. All had second-trimester abnormal ultrasounds: postaxial polydactyly in nine cases (9/11), renal abnormalities in seven (7/11), reduced amniotic fluid volume in two (2/11), central nervous system anomalies in two (2/11), and ascites in three (3/11). Ten fetuses presented with at least two-system anomalies, and one (Case 11) presented with only postaxial polydactyly. Variants were detected in five genes, including BBS2, ARL6/BBS3, BBS7, CEP290/BBS14 and IFT74/BBS22. Ten pregnancies were terminated in the second trimester, while one continued to term. CONCLUSION: Enlarged hyperechogenic kidneys and postaxial polydactyly are the two most common sonographic features of fetal BBS. Prenatal diagnosis of BBS can be done with ultrasound and genetic testing although the diagnosis may be made in the second trimester.
Subject(s)
Bardet-Biedl Syndrome , Phenotype , Ultrasonography, Prenatal , Humans , Bardet-Biedl Syndrome/genetics , Bardet-Biedl Syndrome/diagnosis , Female , Pregnancy , Retrospective Studies , Adult , Polydactyly/genetics , Polydactyly/diagnostic imaging , Polydactyly/diagnosis , Genotype , Pregnancy Trimester, Second , Genetic Testing/methodsSubject(s)
Polydactyly , Humans , Polydactyly/genetics , Polydactyly/diagnosis , Republic of Korea , Fingers/abnormalities , Toes/abnormalities , Male , Female , Phenotype , Mutation , Asian People/geneticsABSTRACT
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH), a type of overgrowth syndrome, is characterized by progressive megalencephaly, cortical brain malformations, and distal limb anomalies. Previous studies have revealed that the overactivity of the phosphatidylinositol 3-kinase-Protein kinase B pathway and the increased cyclin D2 (CCND2) expression were the main factors contributing to this disease. Here, we present the case of a patient who exhibited megalencephaly, polymicrogyria, abnormal neuronal migration, and developmental delay. Serum tandem mass spectrometry and chromosome examination did not detect any metabolic abnormalities or copy number variants. However, whole-exome sequencing and Sanger sequencing revealed a de novo nonsense mutation (NM_001759.3: c.829C>T; p.Gln277X) in the CCND2 gene of the patient. Bioinformatics analysis predicted that this mutation may disrupt the structure and surface charge of the CCND2 protein. This disruption could potentially prevent polyubiquitination of CCND2, leading to its resistance against degradation. Consequently, this could drive cell division and growth by altering the activity of key cell cycle regulatory nodes, ultimately contributing to the development of MPPH. This study not only presents a new case of MPPH and expands the mutation spectrum of CCND2 but also enhances our understanding of the mechanisms connecting CCND2 with overgrowth syndromes.
Subject(s)
Cyclin D2 , Megalencephaly , Polydactyly , Polymicrogyria , Female , Humans , Male , Codon, Nonsense/genetics , Cyclin D2/genetics , Exome Sequencing , Hydrocephalus , Malformations of Cortical Development , Megalencephaly/genetics , Megalencephaly/diagnosis , Polydactyly/genetics , Polydactyly/diagnosis , Polymicrogyria/genetics , Polymicrogyria/diagnosis , Child, PreschoolSubject(s)
Fractures, Bone , Polydactyly , Humans , Thumb , Polydactyly/diagnosis , Fractures, Bone/diagnostic imagingABSTRACT
PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome is a recently described skeletal ciliopathy, which is caused by disease-causing variants in PRKACA. The primary phenotypic description includes atrial septal defects, and limb anomalies including polydactyly and short limbs. To date, only four molecularly proven patients have been reported in the literature with a recurrent variant, c.409G>A p.Gly137Arg in PRKACA. In this study, we report the fifth affected individual with the same variant and review the clinical features and radiographic findings of this rare syndrome.
Subject(s)
Abnormalities, Multiple , Polydactyly , Humans , Polydactyly/genetics , Polydactyly/pathology , Polydactyly/diagnosis , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Abnormalities, Multiple/diagnosis , Female , Heart Septal Defects, Atrial/genetics , Heart Septal Defects, Atrial/diagnostic imaging , Heart Septal Defects, Atrial/diagnosis , Heart Septal Defects, Atrial/pathology , Male , Phenotype , Mutation/genetics , Heart Defects, Congenital/genetics , Heart Defects, Congenital/pathology , Heart Defects, Congenital/diagnosis , Heart Defects, Congenital/diagnostic imaging , IndiaABSTRACT
Ellis-van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, is a rare entity. It most commonly affects the tubular bones leading to dwarfism and a long trunk with ossification defects. Other presentations are wide hands and feet, dysplastic nails, thin hair, and cardiac malformations. An eight-year-old female patient presented to our tertiary care centre with complaints of short stature, abnormal dentition, and fatigue. The child's parents were first-degree relatives. On radiological imaging, it was revealed that the patient had postaxial polydactyly, short stature, and genu valgum deformity along with mild cardiomegaly. All these features were indicative of Ellis-van Creveld syndrome. EVC is a rare clinical syndrome with a distinctive clinical presentation. It requires comprehensive radiological investigations and the management is best done with a multidisciplinary approach.
Subject(s)
Ellis-Van Creveld Syndrome , Heart Defects, Congenital , Polydactyly , Female , Child , Humans , Ellis-Van Creveld Syndrome/complications , Ellis-Van Creveld Syndrome/diagnosis , Polydactyly/diagnosis , FingersSubject(s)
Fingers/abnormalities , Holoprosencephaly , Polydactyly , Toes/abnormalities , Pregnancy , Female , Humans , Holoprosencephaly/diagnostic imaging , Holoprosencephaly/genetics , Pregnancy Trimester, First , Trisomy 13 Syndrome/diagnosis , Polydactyly/diagnosis , Polydactyly/genetics , Trisomy/diagnosis , Trisomy/genetics , Ultrasonography, PrenatalABSTRACT
Long-term follow-up after surgical correction of patients with radial polydactyly might reveal unexpected or undesired outcomes that are accentuated by growth. It should be stressed that assessment of outcomes differs considerably by the system used. Preoperative examination can elucidate the underlying pathological anatomy of these anomalies and consequently, these anatomical differences should be corrected as much as possible during the first operation to prevent worse outcomes at long-term follow-up. In various long-term studies, the reoperation rate was in the range of 7%-28%, with the most common reasons being deviation, instability, nail deformity and suboptimal appearance. Most unfavourable results occur during growth and are frequently revealed only at longer-term follow-up. Concentration of care to a few centres is advised since these malformations occur in small numbers and experienced surgeons tend to have better results. Consensus on the used assessment system and multicentred studies are essential in future to better understand how we can prevent reoperations.
Subject(s)
Plastic Surgery Procedures , Polydactyly , Humans , Polydactyly/surgery , Polydactyly/diagnosis , Forecasting , Thumb/surgery , Thumb/abnormalitiesABSTRACT
A male infant presented with progressive paleness of the body since 3 months of age. On examination, the child had pallor, microcephaly with dysmorphic facies (depressed nasal bridge, low set ears, retrognathia, high arched palate and tongue hamartoma). Postaxial polydactyly in bilateral hands and feet, broad great toes, with syndactyly of left fourth and fifth toes were present. The haemogram showed severe anaemia with a microcytic hypochromic picture. High-performance liquid chromatography (HPLC) was normal. However, the parents' HPLC was suggestive of beta thalassaemia trait. Whole-exome sequencing revealed Thurston syndrome with beta-thalassaemia in homozygous pattern with a novel mutation. It is a rare genetic syndrome exclusively found in the South Asian population. Due to the rarity, identification of this syndrome is often difficult and requires awareness among clinicians. However, it is important to diagnose the disorder accurately in order to provide appropriate genetic counselling and prognostication to the parents.
Subject(s)
Polydactyly , Syndactyly , Thalassemia , beta-Thalassemia , Humans , Infant , Male , beta-Thalassemia/complications , beta-Thalassemia/diagnosis , beta-Thalassemia/genetics , Biological Variation, Population , Polydactyly/diagnosis , Syndactyly/geneticsABSTRACT
A family of Pakistani origin, segregating polydactyly, and phalangeal synostosis in an autosomal dominant manner, has been investigated and presented in the present report. Whole-exome sequencing (WES), followed by segregation analysis using Sanger sequencing, revealed a heterozygous missense variant [c.G1696A, p.(Gly566Ser)] in the LRP4 gene located on human chromosome 11p11.2. Homology protein modeling revealed the mutant Ser566 generated new interactions with at least four other amino acids and disrupted protein folding and function. Our findings demonstrated the first direct evidence of involvement of LRP4 in causing polydactyly and phalangeal synostosis in the same family. This study highlighted the importance of inclusion of LRP4 gene in screening individuals presenting polydactyly in hands and feet, and phalangeal synostosis in the same family.
Subject(s)
Polydactyly , Synostosis , Humans , Low Density Lipoprotein Receptor-Related Protein-1/genetics , Pakistan , Polydactyly/diagnosis , Synostosis/diagnosis , Synostosis/genetics , Fingers , Pedigree , LDL-Receptor Related Proteins/geneticsABSTRACT
INTRODUCTION: Caroli disease is multifocal segmental dilatation of the large intrahepatic bile ducts that connect to the main duct. It is considered a rare disease with an incidence rate of 1 in 1,000,000 births. There are two types of Caroli: the first type is the simple type, Caroli disease, which includes only cystic dilatation of the intrahepatic bile ducts. The second is called Caroli syndrome, which consists of Caroli disease and congenital hepatic fibrosis and might lead to portal hypertension leading to esophageal varices and splenomegaly. Atrial septal defect is one of the most common congenital heart diseases, occurring when the connection between the left and the right atriums fails to close. Polydactyly is one of the most common congenital malformations of the hands and feet. It manifests in excess fingers on the hands or toes. CASE PRESENTATION: A 6-year-old Arab girl presented to the hospital with abdominal pain for the last month with abdominal enlargement. The patient was already diagnosed with Caroli disease and polydactyly (six fingers on each limb) when she was born. Investigations including complete blood count, blood smear, bone marrow biopsy, esophagoscopy, abdominal ultrasound, and computed tomography scan showed splenomegaly associated with hypersplenism, fourth-grade non-bleeding varices, intrahepatic cystic formations in the left and right lobes, and an atrial septal defect with a left-to-right shunt. The patient was scheduled for a splenectomy after she was vaccinated with the appropriate vaccines. After follow-up for a week in the hospital, complete blood count showed an improvement. A month after that, the patient had liver abscesses and biliary fistula that were treated appropriately and her symptoms resolved. CONCLUSION: The association of liver diseases, polydactyly, and congenital heart diseases is extremely rare and was only documented few times in the literature. However, to our knowledge, atrial septal defect has never been part of this combination before. The family history also makes this case unique and strongly suggests genetic etiology.
Subject(s)
Caroli Disease , Heart Septal Defects, Atrial , Polydactyly , Female , Humans , Child , Caroli Disease/complications , Caroli Disease/diagnosis , Caroli Disease/pathology , Splenomegaly , Bile Ducts, Intrahepatic/pathology , Polydactyly/diagnosis , Polydactyly/diagnostic imaging , Heart Septal Defects, Atrial/diagnosis , Heart Septal Defects, Atrial/diagnostic imagingABSTRACT
OBJECTIVE: To evaluate radiological (gestational and perinatal) and neonatal signs of patients with Patau syndrome and semilobar holoprosencephaly, as well as to report the association of both pathologies. CASE DESCRIPTION: This case report is about a female infant, born at term with trisomy of the chromosome 13 and semilobar holoprosencephaly, with thalamic fusion and a single cerebral ventricle, in addition to several other changes that worsened the patient's prognosis. COMMENTS: Chromosome 13 trisomy is a genetic alteration that leads to the symptoms that determines Patau syndrome. In this syndrome, cardiovascular, urogenital, central nervous system, facial structure and intellectual impairment are common, in addition to problems in limb formation, such as decreased humerus and femur length, polydactyly, hypotelorism and low ear implantation. It is estimated, however, that holoprosencephaly is present in only 24 to 45% of the patients with trisomy 13.
Subject(s)
Holoprosencephaly , Polydactyly , Infant, Newborn , Pregnancy , Infant , Humans , Female , Holoprosencephaly/diagnosis , Holoprosencephaly/diagnostic imaging , Trisomy 13 Syndrome/complications , Trisomy 13 Syndrome/diagnosis , Trisomy , Polydactyly/complications , Polydactyly/diagnosis , Polydactyly/genetics , Mutation , Chromosomes, Human, Pair 13ABSTRACT
PURPOSE OF REVIEW: Polydactyly presents with variable extent of duplication and may involve preaxial/radial (hand)/medial (foot), postaxial/ulnar (hand)/lateral (foot) or central duplication. This review will summarize recent advancements in the surgical management of this common entity. RECENT FINDINGS: Modifications to classification systems aim to help guide surgical management of polydactyly. Attempts have been made at quantifying preoperative angulation of the duplicated digits to minimize the chance of residual or recurrent deformity after surgical reconstruction. As a result, consideration should be given to the need for soft tissue correction vs. osteotomy to optimize the clinical outcome. On-top plasty is an option that may be beneficial in 'unequal' preaxial polydactyly, where neither duplicate is preferred on its own. SUMMARY: Polydactyly is one of the most common congenital anomalies in the hands and feet. Determination of surgical intervention often begins with classification systems that exist, which primarily separate these into preaxial, postaxial, and central. Referral for surgical consideration is indicated, given the management is often surgical.
Subject(s)
Plastic Surgery Procedures , Polydactyly , Humans , Polydactyly/diagnosis , Polydactyly/surgery , Thumb/abnormalities , OsteotomyABSTRACT
In the routine treatment at the hospital, it was observed that a 31-year-old Asian woman developed foot pain after work, with clinical manifestations including local tenderness, abrasion, and a rare case of polydactyly with bilateral foot asymmetry. In addition, we also found that the patient had two-handed symmetric polydactyly. According to our observations, there seem to be few similar cases reported in the past of a two-handed symmetric polydactyly combined with a feet asymmetry polydactyly in the same person, so this is a relatively rare reported case of polydactyly. This paper aims to present detailed case report and discuss related diseases in a morphological and clinical study.
Subject(s)
Foot Deformities, Congenital , Hand Deformities, Congenital , Polydactyly , Female , Humans , Adult , Polydactyly/diagnosis , Foot , HandABSTRACT
El síndrome de Bardet Biedl es un síndrome genético de herencia autosómica recesiva con compromiso multisistémico y gran variabilidad en su presentación clínica; son características la obesidad, la polidactilia, el hipogonadismo y las alteraciones renales, visuales y cognitivas. Pertenece a las llamadas ciliopatías. El diagnóstico es clínico y puede ser confirmado por estudios genéticos. No existe un tratamiento específico de la patología; se requiere un abordaje multidisciplinario. Se presenta el caso de una paciente de 13 años con obesidad e hiperfagia, diabetes tipo 2, hipotiroidismo, polidactilia, alteraciones del aprendizaje y alteraciones visuales. Se le realizó un panel genético para obesidad en el que se detectaron dos variantes heterocigotas patológicas en el gen BBS2.
Bardet Biedl syndrome is an autosomal recessive ciliopathie. It is a pleiotropic disorder characterised by retinal dystrophy, renal dysfunction, polydactyly, obesity, cognitive deficitand hypogenitalism. Diagnosis is based on clinical features. Molecular genetic testing is available. There is no specific treatment, a multidisciplinary approach is required. We report the case of a 13-year-old female patient with obesity and hyperphagia, type 2 diabetes, hypothyroidism, polydactyly,cognitive deficit and visual impairment. A multigenic panel allowed the identification of two heterozygous pathogenic variants in the BBS2 gene.
Subject(s)
Humans , Female , Adolescent , Polydactyly/diagnosis , Bardet-Biedl Syndrome/complications , Bardet-Biedl Syndrome/diagnosis , Bardet-Biedl Syndrome/genetics , Diabetes Mellitus, Type 2 , Obesity/diagnosisABSTRACT
OBJECTIVE: We present rapid confirmation of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction (QF-PCR) following postmortem tissue cell culture failure in a pregnancy with trisomy 13 at amniocentesis and fetal postaxial polydactyly and facial cleft. CASE REPORT: A 34-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Cytogenetic analysis of cultured amniocytes revealed a karyotype of 47,XX,+13. Prenatal ultrasound revealed postaxial polydactyly. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial cleft and postaxial polydactyly of the hand and foot. Postmortem cytogenetic analysis of the fetal tissue revealed no growth of the cells due to culture failure, but QF-PCR analysis on the DNA extracted from placenta, umbilical cord and parental bloods confirmed trisomy 13 and maternal origin of the extra chromosome 13. CONCLUSION: QF-PCR analysis is useful for rapid perinatal confirmation of trisomy 13 and the parental origin of the extra chromosome 13, especially under the circumstance of tissue cell culture failure, and the acquired information is useful for genetic counseling.
Subject(s)
Amniocentesis , Polydactyly , Pregnancy , Female , Humans , Adult , Trisomy 13 Syndrome/diagnosis , Trisomy 13 Syndrome/genetics , Trisomy/diagnosis , Trisomy/genetics , Mosaicism , Comparative Genomic Hybridization , In Situ Hybridization, Fluorescence , Polydactyly/diagnosis , Polydactyly/genetics , Fetus , Polymerase Chain Reaction , Cell Culture TechniquesABSTRACT
Bardet Biedl syndrome is an autosomal recessive ciliopathie. It is a pleiotropic disorder characterised by retinal dystrophy, renal dysfunction, polydactyly, obesity, cognitive deficit and hypogenitalism. Diagnosis is based on clinical features. Molecular genetic testing is available. There is no specific treatment, a multidisciplinary approach is required. We report the case of a 13-year-old female patient with obesity and hyperphagia, type 2 diabetes, hypothyroidism, polydactyly, cognitive deficit and visual impairment. A multigenic panel allowed the identification of two heterozygous pathogenic variants in the BBS2 gene.
El síndrome de Bardet Biedl es un síndrome genético de herencia autosómica recesiva con compromiso multisistémico y gran variabilidad en su presentación clínica; son características la obesidad, la polidactilia, el hipogonadismo y las alteraciones renales, visuales y cognitivas. Pertenece a las llamadas ciliopatías. El diagnóstico es clínico y puede ser confirmado por estudios genéticos. No existe un tratamiento específico de la patología; se requiere un abordaje multidisciplinario. Se presenta el caso de una paciente de 13 años con obesidad e hiperfagia, diabetes tipo 2, hipotiroidismo, polidactilia, alteraciones del aprendizaje y alteraciones visuales. Se le realizó un panel genético para obesidad en el que se detectaron dos variantes heterocigotas patológicas en el gen BBS2.
Subject(s)
Bardet-Biedl Syndrome , Diabetes Mellitus, Type 2 , Polydactyly , Humans , Female , Adolescent , Bardet-Biedl Syndrome/complications , Bardet-Biedl Syndrome/diagnosis , Bardet-Biedl Syndrome/genetics , Polydactyly/diagnosis , Obesity/diagnosisABSTRACT
RATIONALE: Triphalangeal thumb (TPT) is a rare congenital malformation where the thumb has three phalanges instead of two. Syndactyly is a condition in which children are born with fused or webbed fingers. The combination of TPT, Syndactyly, and thumb duplication is extremely rare, especially when these deformities are combined in one hand. PATIENT CONCERNS: Hand abnormalities and polydactyl have been reported in a 1-year-old boy. DIAGNOSIS: A clinical examination reveals two thumb duplications, finger fusion (Syndactyly), and a thumb with three phalanges (TPT). The diagnosis was based on clinical findings and an X-ray image of the hand. INTERVENTIONS: The Z-plasty method was used to remove the adhesion between the thumb and forefinger, as well as the removal of the medial and distal phalanx of the thumb's medial tip. OUTCOMES: The patient was followed for 2 months and found him in good health. To authors' knowledge, we described an unusual case from Syria, considered the first in medical history. LESSONS LEARNED: General and plastic surgeons should be aware about this unusual mix of the three abnormalities. The family history must also be carefully investigated to explore the occurrence of hereditary illnesses.
Subject(s)
Hand Deformities, Congenital , Polydactyly , Syndactyly , Humans , Male , Child , Infant , Thumb/surgery , Thumb/abnormalities , Syndactyly/diagnosis , Syndactyly/genetics , Syndactyly/surgery , Hand Deformities, Congenital/diagnostic imaging , Hand Deformities, Congenital/genetics , Polydactyly/diagnosis , Polydactyly/surgeryABSTRACT
OBJECTIVES: This study aims to compare the usefulness of two systems in classifying thumb duplication cases and give some examples of the cases we believe that are unclassifiable. PATIENTS AND METHODS: Between January 2011 and January 2018, a total of 50 patients (29 males, 21 females; median age: 46.4±68.3 months; range, 1 to 318 months) with thumb duplications as assessed according to the Wassel and Rotterdam classification systems were included. RESULTS: Duplication was present in the right hand in 28, in the left hand in 21, and in both hands in one patient. According to the Wassel classification system, 45 patients could be allocated in any of the types; however, five patients could not be classified. According to the Rotterdam classification, 47 cases fell into one of the classifications; however, three cases could not be classified. CONCLUSION: Despite efforts to find the best classification system for thumb duplications, the proposed systems may not fully cover the presented radial polydactyly cases, and additions to the system are required.
Subject(s)
Polydactyly , Thumb , Child , Child, Preschool , Female , Humans , Male , Polydactyly/diagnosis , Polydactyly/geneticsABSTRACT
BACKGROUND: Bardet-Biedl syndrome is a rare multisystem autosomal recessive disorder that falls under the spectrum of ciliopathy disorders. It is characterized by rod-cone dystrophy, renal malformations, polydactyly, learning difficulties, central obesity, and hypogonadism. Many minor features that are related with Bardet-Biedl syndrome might aid in diagnosis and are crucial in clinical management. Bardet-Biedl syndrome is diagnosed on the basis of clinical signs and symptoms, which can be confirmed by genetic testing. Here we present four cases of Bardet-Biedl syndrome. To our knowledge, these are the first cases of Bardet-Biedl syndrome reported from Sudan. CASE PRESENTATION: Here, we report four Sudanese patients who presented with a variety of clinical manifestations of Bardet-Biedl syndrome (two males, 50 and 16 years old; two females, 38 and 18 years old). The first two patients presented with features of chronic kidney disease. The third patient had recently been diagnosed with type 1 diabetes and diabetic ketoacidosis. The fourth patient showed signs of retinal dystrophy early on. Case 1: a 38-year-old female presented with vomiting and irritability; the patient was diagnosed with Bardet-Biedl syndrome as she fulfilled six items of the primary features (obesity, retinitis pigmentosa, post-axial polydactyly, renal abnormalities, learning disabilities, and genitourinary malformations), as well as one secondary feature (cardiovascular involvement, that is, left ventricular hypertrophy). Case 2: a 50-year-old male presented with fatigability; the patient was diagnosed with Bardet-Biedl syndrome as he fulfilled four items of the primary features (obesity, retinitis pigmentosa, post-axial polydactyly, and renal abnormalities) in addition to two secondary features (diabetes mellitus and cardiovascular involvement, that is, left ventricular hypertrophy). Case 3: an 18-year-old female presented with polyuria, polydipsia, weight loss, and epigastric pain for 2 days; the patient was diagnosed with Bardet-Biedl syndrome because he had four major features (retinal dystrophy, post-axial polydactyly, obesity, and learning disabilities) in addition to three secondary features (developmental delay, diabetes mellitus, and strabismus). Case 4: a 16-year-old male presented with a blurring of vision; the patient was diagnosed with Bardet-Biedl syndrome as he exhibited four major features (retinal dystrophy, post-axial polydactyly, obesity, and learning disabilities) plus two secondary features (developmental delay and cataract). CONCLUSION: The scarcity of Bardet-Biedl syndrome necessitates a high index of suspicion to diagnose this syndrome. Increased awareness among physicians is required for the early diagnosis and treatment of Bardet-Biedl syndrome and to avoid complications and mortality.