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Fetal micrognathia

Julia Bijok, Anna Kucińska-Chahwan, Lena Gielniewska-Michalczyk, Diana Massalska, Grzegorz Jakiel, Tomasz Roszkowski
Otocephaly is an extremely rare lethal congenital anomaly characterized by the absence or underdevelopment of the mandible. The clinical presentation is variable. Some cases may present with severe micrognathia as the only anomaly seen prenatally. The key to early diagnosis is careful assessment of the location of the fetal ears on 2D ultrasound examination.
February 12, 2019: Journal of Clinical Ultrasound: JCU
Andrea Salazar Trujillo, Cristian Rincón-Guio, Lisseth López Narváez, Juan Cáceres, José D Charry
Ultrasound has been used since the 1950s as a useful tool for the screening of several pregnancy abnormalities. The National Institute for Excellence in Health and Care (NICE) guidelines for prenatal control recommend its routine use between 12 and 20 weeks of gestational age, given that during the first trimester, a series of very frequent markers that determine a high risk of fetal anomalies can be evaluated. Among these markers, the most frequently studied are: increased nuchal translucency, the absence of nasal bones, increased tricuspid regurgitation, and altered flow in the venous duct...
January 27, 2019: Journal of Maternal-fetal & Neonatal Medicine
Irit Duek, Ziv Gil, Ido Solt
Thorough prenatal evaluation allows for identification of fetuses with compromised airway. The ex utero intrapartum treatment procedure enables maintaining uteroplacental circulation during cesarean section while securing a potentially obstructed fetal airway, converting a potentially catastrophic situation into a controlled one. An expert multidisciplinary team is the key to success.
November 2018: Clinical Case Reports
Cecilia Mancini, Andrea Zonta, Giovanni Botta, Andrea Breda Klobus, Stefano Valbonesi, Barbara Pasini, Elisa Giorgio, Elsa Viora, Alfredo Brusco, Alessandro Brussino
Microphthalmia with limb anomalies (MLA, OMIM, 206920) is a rare autosomal-recessive disease caused by biallelic pathogenic variants in the SMOC1 gene. It is characterized by ocular disorders (microphtalmia or anophtalmia) and limb anomalies (oligodactyly, syndactyly, and synostosis of the 4th and 5th metacarpals), variably associated with long bone hypoplasia, horseshoe kidney, venous anomalies, vertebral anomalies, developmental delay, and intellectual disability. Here, we report the case of a woman who interrupted her pregnancy after ultrasound scans revealed a depression of the frontal bone, posterior fossa anomalies, cerebral ventricular enlargement, cleft spine involving the sacral and lower-lumbar vertebrae, and bilateral microphthalmia...
November 13, 2018: European Journal of Medical Genetics
Ritsuko K Pooh, Megumi Machida, Takako Nakamura, Koutaro Uenishi, Hideaki Chiyo, Kyoko Itoh, Jun Yoshimatsu, Hatsue Ueda, Keiko Ogo, Piya Chaemsaithong, Liona C Poon
OBJECTIVES: To evaluate Sylvian fissure development by assessing Sylvian fissure angles in cases with malformations of cortical development (MCD). METHODS: This was a retrospective study of 22 cases of MCD. 7/22 cases had extracranial abnormalities such as cardiac, renal, gastrointestinal and/or digital anomalies, and 5/22 had minor abnormalities such as micrognathia, lowset ear and single umbilical artery. Cases with stored three-dimensional (3D) brain volume acquired at 18+0 and 30+6 weeks of gestation at an ultrasound-based research clinic between January 2010 and December 2017 were identified through a database...
October 31, 2018: Ultrasound in Obstetrics & Gynecology
Annisa Shui Lam Mak, Kwok Yin Leung
Craniofacial abnormalities are common. It is important to examine the fetal face and skull Epub ahead of print during prenatal ultrasound examinations because abnormalities of these structures may indicate the presence of other, more subtle anomalies, syndromes, chromosomal abnormalities, or even rarer conditions, such as infections or metabolic disorders. The prenatal diagnosis of craniofacial abnormalities remains difficult, especially in the first trimester. A systematic approach to the fetal skull and face can increase the detection rate...
July 3, 2018: Ultrasonography
Jing Lu, Daljit Singh Sahota, Liona C Poon, Yuen Ha Ting, Yvonne Kwun Yue Cheng, Yue Wang, Tak Yeung Leung
OBJECTIVE: To investigate the intraobserver and interobserver reproducibility of a novel sonographic parameter named facial maxillary angle (FMA) and to establish nomograms of FMA, inferior facial angle (IFA), frontal nasal-mental angle (FNMA), maxilla-nasion-mandible angle (MNMA), and fetal profile line (FPL) in Chinese fetuses. METHODS: In this prospective cross-sectional study, FMA, IFA, FNMA, MNMA, and FPL were measured in 592 normal fetuses between 16 and 36 gestational weeks...
October 17, 2018: Prenatal Diagnosis
Cory M Resnick, Tessa D Kooiman, Carly E Calabrese, Ryne Didier, Bonnie L Padwa, Judy A Estroff, Maarten J Koudstaal
OBJECTIVE: Glossoptosis causes airway obstruction in patients with Robin sequence (RS), but little is known about the in-utero tongue. The purpose of this study was to assess shape and position of the fetal tongue on prenatal magnetic resonance imaging (MRI) to determine if this is predictive of postnatal RS. DESIGN: Retrospective case-control study including fetuses with prenatal MRIs performed from 2002 to 2017. Inclusion criteria were (1) prenatal MRI of adequate quality, (2) live born and evaluated postnatally for craniofacial findings...
April 2018: Cleft Palate-craniofacial Journal
Cory M Resnick, Tessa D Kooiman, Carly E Calabrese, David Zurakowski, Bonnie L Padwa, Maarten J Koudstaal, Judy A Estroff
BACKGROUND: Infants with Robin sequence (RS) may present with airway compromise at delivery. Prenatal diagnosis would improve preparation and postnatal care. The purpose of this study was to devise a predictive algorithm for RS based on fetal magnetic resonance imaging (MRI). METHODS: Retrospective case-control study including fetal MRIs from 2002 to 2017. Inclusion criteria were (1) MRI of adequate quality, (2) live-born infant, and (3) postnatal evaluation. Subjects were grouped on the basis of postnatal diagnosis: (1) RS (micrognathia, glossoptosis, airway obstruction), (2) micrognathia without airway obstruction ("micrognathia"), (3) cleft lip and palate ("CLP"), and (4) gestational age-matched controls...
April 2018: Prenatal Diagnosis
Hamizah Mohd Yunos, Andrew Green
INTRODUCTION: Fetal valproate syndrome was first described in 1984. Valproic acid crosses the placenta and can potentially lead to major congenital malformation, dysmorphism and neurodevelopmental disorder. METHODS: A retrospective study of 29 cases of FVS diagnosed by geneticists from 1995 to 2016. The cases were diagnosed based on criteria of fetal anticonvulsant syndrome. RESULTS: A total of 29 cases reported in the last 21 years. Features commonly described are prominent metopic ridge, midface hypoplasia, epicanthic folds, micrognathia and broad and flat nasal bridge...
November 2018: Irish Journal of Medical Science
Xuan-Hong Tomai, Thanh-Xuan Jasmine, Thanh-Hai Phan
Pena-Shokeir phenotype is a lethal anomaly characterized by neurogenic arthrogryposis, craniofacial anomalies, and pulmonary hypoplasia. This syndrome should be distinguished from trisomy 18 and arthrogryposis multiplex congenita for better counseling and establishing fetal prognosis. We present the case of a pregnant woman diagnosed with a Pena-Shokeir phenotype affected fetus at 24 weeks of gestation. Prenatal ultrasonography and fetal magnetic resonance imaging detected persistent hyperextension of the lumbar spine, micrognathia, absent septum pellucidum, and all characteristic features of Pena-Shokeir phenotype...
May 2017: Ultrasound: Journal of the British Medical Ultrasound Society
S Vucic, T I M Korevaar, B Dhamo, V W V Jaddoe, R P Peeters, E B Wolvius, E M Ongkosuwito
Children with low levels of thyroid hormones (hypothyroidism) have delayed tooth eruption, enamel hypoplasia, micrognathia, and anterior open bite, whereas children with hyperthyroidism may suffer from accelerated tooth eruption, maxillary, and mandibular osteoporosis. However, it is still unknown whether thyroid function variations within the normal or subclinical range also have an impact on hard dental tissues in healthy children. The objective of this study was, therefore, to investigate the association between thyroid function from the fetal period until early childhood and dental development at school age...
August 2017: Journal of Dental Research
Gabriele Tonni, Gianpaolo Grisolia, Eduardo Félix Santana, Edward Araujo Júnior
AIM: To show imaging results from application of four-dimensional (4D) ultrasound lightening technique (HDlive™) in clinical obstetrics practice. METHODS: Normal and abnormal fetuses at second and third trimester of pregnancy undergoing routine scan with 4D HDlive™ (5DUS) in the rendering mode are described. Realistic features of fetal structures were provided by 5DUS in the rendering mode. Normal anatomy as well as pathology like cleft lip, hypoplastic face, micrognathia, low-set ears, corpus callosum, arthrogryposis, aortic arch, left congenital diaphragmatic hernia are highlighted in this study...
December 28, 2016: World Journal of Radiology
Gianina Ravenscroft, Nataliya Di Donato, Gabriele Hahn, Mark R Davis, Paul D Craven, Gemma Poke, Katherine R Neas, Teresa M Neuhann, William B Dobyns, Nigel G Laing
Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset disease. In this report we described two isolated probands that presented in utero with features associated with reduced fetal movements...
November 2016: Neuromuscular Disorders: NMD
Bárbara Ribeiro, Joana Igreja, Miguel Gonçalves-Rocha, Alexandra Cadilhe
Goldenhar syndrome is a rare congenital disease associated with hemifacial hypoplasia as well as ear and ocular defects. Sometimes it is also associated with vertebral and other bone defects, cardiac malformations and central nervous system anomalies. Its aetiology is not yet clarified in the literature. We present a case of multiple malformations detected in the morphology ultrasound (at 22 weeks of gestation), namely absent nasal bones, micrognathia and absent left radius, among other defects. Genetic counselling, fetal brain MRI and cardiac sonography, which showed ventricular septal defect, were performed...
June 21, 2016: BMJ Case Reports
Sirida Pittyanont, Phudit Jatavan, Songkiat Suwansirikul, Theera Tongsong
A fetal sonographic screening examination performed at 23 weeks showed polyhydramnios, micrognathia, fixed postures of all long bones, but no movement and no breathing. The fetus showed fetal heart rate acceleration but no movement when acoustic stimulation was applied with artificial larynx. All these findings persisted on serial examinations. The neonate was stillborn at 37 weeks and a final diagnosis of Pena-Shokeir sequence was made. In addition to typical sonographic features of Pena-Shokeir sequence, fetal heart rate accelerations with no movement in response to acoustic stimulation suggests that peripheral myopathy may possibly play an important role in the pathogenesis of the disease...
September 2016: Journal of Clinical Ultrasound: JCU
Agata Szpera-Goździewicz, Mariola Ropacka-Lesiak, Paweł Rzymski, Grzegorz H Bręborowicz
The aim of the study was to present a case of Smith-Lemli-Opitz syndrome (SLOS) in a fetus of a 33-year-old patient. At 31 weeks of gestation, the following fetal malformations were detected on an ultrasound: atrioventricular septal defect (AVSD), aortic coarctation, shortening of the lower limbs, narrow forehead, hyperthelorism, micrognathia, anteverted nares, ambiguous genitalia, and signs of intrauterine growth restriction. The baby died 11 days after birth. Further genetic screening of the parents revealed the 7-DHCR enzyme mutation in both of them...
2016: Ginekologia Polska
Tharangrut Hanprasertpong, Uiko Hanaoka, Xia Zhang, Nobuhiro Mori, Eisuke Inubashiri, Kenji Kanenishi, Chizu Yamashiro, Hirokazu Tanaka, Atsuko Shiota, Toshihiro Yanagihara, Toshiyuki Hata
We present a case of fetal Wolf-Hirschhorn syndrome diagnosed by conventional two-dimensional and three-dimensional ultrasonography. Conventional two-dimensional ultrasonography revealed a diaphragmatic hernia, nuchal edema, and suspected hypospadias. Three-dimensional ultrasonography clearly showed a flattening of the face, a high forehead, a broad nasal bridge continuing to the forehead, exophthalmos, and micrognathia (resembling the appearance of a Greek warrior helmet), but conventional two-dimensional ultrasonography did not depict these findings...
December 2008: Journal of Medical Ultrasonics
Carolyn R Rogers-Vizena, John B Mulliken, Kimberly M Daniels, Judy A Estroff
BACKGROUND: Prenatal magnetic resonance imaging is increasingly used to detect congenital anomalies. The purpose of this study was to determine whether prenatal magnetic resonance imaging accurately characterizes features predictive of postnatal Robin sequence so that possible airway compromise and feeding difficulty at birth can be anticipated. METHODS: The authors retrospectively identified pregnant women who underwent fetal magnetic resonance imaging between 2002 and 2014 and were found to be carrying a fetus with micrognathia...
June 2016: Plastic and Reconstructive Surgery
Adam Braden, Christopher Maani, Christopher Nagy
Ex utero intrapartum treatment (EXIT) procedures are therapeutic interventions for fetuses with life-threatening airway abnormalities and/or other prenatally diagnosed congenital malformations requiring immediate neonatal extracorporeal membrane oxygenation support. Although certain anesthetic goals are common among EXIT procedures, many different approaches to their management have been described in the literature. Herein, we present a novel anesthetic approach to an EXIT procedure for fetal micrognathia and retrognathia...
June 2016: Journal of Clinical Anesthesia
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