ABSTRACT
In skeletal dysplasias, there are short rib polydactyly syndromes, which traditionally differentiate into four lethal types. This report describes a case of Type III, which presented characteristics of Types I and II. A 38-year-old woman presented fetal growth restriction at 17 weeks and 6 days, decreased amniotic fluid, enlarged and hyperechogenic kidneys, and long bones below the 3rd percentile. Three weeks later, she developed anhydramnia. The couple did not consent to the performance of an invasive test for genetic diagnosis and chose to maintain the pregnancy. At 33 weeks, due to premature labor and interactivity, a cesarean section was performed, giving birth to a female baby, who died due to respiratory failure there were no vocal cords and no trachea visible at laryngoscopy. On physical examination, he had the phenotypic characteristics of the syndrome. An X-ray showed short ribs and severe pulmonary hypoplasia. After birth, the parents chose not to carry out a genetic study or an anatomical examination. Researchers have suggested that there is an intersection of the anatomical changes of the types. This case report supports this theory.
En las displasias esqueléticas, existen síndromes de polidactilia de costillas cortas, que tradicionalmente se diferencian en cuatro tipos letales. Este reporte describe un caso del tipo III, que presentó características de los tipos I y II. Mujer de 38 años con restricción del crecimiento fetal a las 17 semanas y 6 días, líquido amniótico disminuido, riñones agrandados e hiperecogénicos y huesos largos por debajo del percentil 3. Tres semanas después, desarrolló anhidramnia. La pareja no consintió en la realización de una prueba invasiva de diagnóstico genético y optó por mantener el embarazo. A las 33 semanas, debido al parto prematuro y la interactividad, se realizó una cesárea, dando a luz a un bebé, que murió debido a una insuficiencia respiratoria: no había cuerdas vocales ni tráquea visible en la laringoscopia. Al examen físico presentaba las características fenotípicas del síndrome. Una radiografía mostró costillas cortas e hipoplasia pulmonar severa. Después del nacimiento, los padres optaron por no realizar un estudio genético ni un examen anatómico. Los investigadores han sugerido que existe una intersección de los cambios anatómicos de los tipos. Este reporte de caso apoya esta teoría.
Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Short Rib-Polydactyly Syndrome/diagnosisABSTRACT
Short rib polydactyly syndromes (SRPS) are a group of inherited autosomal recessive skeletal dysplasias. It is characterized by the triad of micromelia, polydactyly and short horizontal ribs with or without visceral involvement. We report a case of SRPS-2 in a fresh stillborn and discuss the differential diagnosis.
Subject(s)
Adult , Diagnosis, Differential , Female , Humans , Pregnancy , Short Rib-Polydactyly Syndrome/diagnosis , StillbirthABSTRACT
Our aim was to demonstrate the potential of first-trimester embryofetoscopy for prenatal diagnosis in a continuing pregnancy. A patient at risk for giving birth to an infant with short rib-polydactyly syndrome, type II (Majewski), presented for prenatal diagnosis at 9 weeks of gestation. A 1 mm semirigid fiberoptic endoscope with an 18 gauge examination sheath and a single-chip digital camera were used for transabdominal embryofetoscopy. Transabdominal embryofetoscopy was performed at 13 weeks of gestation. Direct visualization of the fetus was achieved and no gross limb or facial abnormalities were seen. This case shows that embryofetoscopy is a useful tool for early diagnosis in high-risk patients in the first trimester for continuing pregnancies.
Subject(s)
Adult , Female , Humans , Infant, Newborn , Pregnancy , Fetal Diseases/diagnosis , Fetoscopy/methods , Pregnancy Outcome , Pregnancy Trimester, First , Short Rib-Polydactyly Syndrome/diagnosisSubject(s)
Fatal Outcome , Female , Humans , Infant, Newborn , Short Rib-Polydactyly Syndrome/diagnosisABSTRACT
En este artículo se presenta un caso con el síndrome de costillas cortas y polidactilia tipo Saldino-Noonan. Se comparan los hallazgos clínicos, patológicos y radiológicos con los descritos en la bibliografía sobre el tema, en cada una de las variaciones fenotípicas descritas para el síndrome
Subject(s)
Short Rib-Polydactyly Syndrome/diagnosis , Short Rib-Polydactyly SyndromeABSTRACT
Short rib polydactyly syndrome (SRPS) consists of a group of lethal skeletal dysplasias presenting with short limbs and ribs, hypoplastic thorax and polydactyly with or without visceral abnormalities. The authors report a case of SRPS in a fresh stillborn baby who had these features along with dysplastic kidneys. Clinical and radiological findings in this baby were consistent with SRPS - Type I (Saldino-Noonan Type). The diagnosis of SRPS, as in this case, can be made by antenatal ultrasonography.
Subject(s)
Consanguinity , Fatal Outcome , Female , Fetal Death , Humans , Pregnancy , Pregnancy Outcome , Prenatal Diagnosis , Short Rib-Polydactyly Syndrome/diagnosisABSTRACT
Um caso de sindrome de Meckel-Gruber foi diagnosticado por embrioscopia com 10 semanas de amenorreia, permitindo a interrupcao precoce da gestacao. O exame anatomo-patologico confirmou a presenca de polidactilia e as lesoes cisticas renais bilaterais dos mesonefrons e metanefrons
Subject(s)
Humans , Female , Pregnancy , Adult , Prenatal Diagnosis/methods , Fetus/abnormalities , Embryonic Structures/pathology , Short Rib-Polydactyly Syndrome/diagnosisABSTRACT
Paciente recién nacido, producto de parto distócico con presencia de líquido amniótico menoneal, apgar 5, sexo masculino; luego del examen físico apariencia normal, a excepción de presentar seis dedos en manos y pies, los cuales presentan características normales aparentemente. Madre multípara, añosca (40 años de edad), estado nutricional hipotrófico, presenta seis dedos en una mano.