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Medicine Oct 2019Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is caused by mutations in GPC3 or in both GPC3 and GPC4. Physical manifestations of SGBS1 include fetal overgrowth and...
RATIONALE
Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is caused by mutations in GPC3 or in both GPC3 and GPC4. Physical manifestations of SGBS1 include fetal overgrowth and macrostomia, macroglossia. Subclinical hypothyroidism has never been reported in SGBS1 cases.
PATIENT CONCERNS
An 8-days-old boy was referred to our hospital with persistent hypoglycemia and special facies. And the infant showed elevated levels of thyroid-stimulating hormone (TSH). Free T4 and free T3 were normal.
DIAGNOSES
Definitive diagnosis of SGBS1 depends on clinical features and genetic testing. A nonsense mutation (c.1515C > A, p. Cys505*) was tested by whole-exome sequencing.
INTERVENTIONS
Normal blood glucose levels were maintained with glucose infusions. Levothyroxine was given to the patient for treating subclinical hypothyroidism.
OUTCOMES
The parents decided to abandon the treatment of the patient. We learned that the patient died of a lung infection by a telephone follow-up.
LESSONS
Subclinical hypothyroidism could be added to the known clinical manifestations of SGBS1.
Topics: Arrhythmias, Cardiac; China; Diagnosis, Differential; Fatal Outcome; Genetic Diseases, X-Linked; Gigantism; Heart Defects, Congenital; Humans; Hypothyroidism; Infant, Newborn; Intellectual Disability; Male
PubMed: 31651874
DOI: 10.1097/MD.0000000000017616 -
BMC Pulmonary Medicine Aug 2019Ablepharon macrostomia syndrome (AMS) is a rare congenital malformation disorder caused by the autosomal-dominant mutations in gene TWIST2. Patients affected by the...
BACKGROUND
Ablepharon macrostomia syndrome (AMS) is a rare congenital malformation disorder caused by the autosomal-dominant mutations in gene TWIST2. Patients affected by the disease present abnormalities in ectoderm-derived structures mainly consisting in major facial dysmorphic features and rarely in visceral anomalies. The only laryngo-tracheal defect reported is malacia, with no reference to any anatomical stenosis. We describe a unique case of laryngo-tracheal stenosis in a woman, with genetically confirmed AMS currently followed at our Department.
CASE PRESENTATION
A 37-year-old Caucasian woman was admitted to the intensive care unit for acute dyspnea that required orotracheal intubation followed by tracheostomy. The bronchoscopy revealed abnormal tracheal tissue at the level of the cricoid and the first three tracheal rings reducing airway caliber by 80% (grade III according to the Cotton-Meyer classification). Treatment of the stenosis by means of temporary tracheostomy and corticosteroids therapy resulted in airway patency restoration and patient's return to her normal activities. Bronchoscopy at four and five months showed disappearance of the abnormal tissue and a residual anatomical laryngo-tracheal stenosis of about 20% (grade I according to the Cotton-Meyer classification) of the normal airway caliber.
CONCLUSIONS
To our knowledge, this is the first patient affected by AMS presenting with laryngo-tracheal stenosis.
Topics: Abnormalities, Multiple; Adrenal Cortex Hormones; Adult; Dyspnea; Eye Abnormalities; Female; Humans; Intubation, Intratracheal; Macrostomia; Mutation; Trachea; Tracheal Stenosis; Tracheostomy
PubMed: 31462237
DOI: 10.1186/s12890-019-0921-8 -
Taiwanese Journal of Obstetrics &... Jul 2019We present a case with prenatal diagnosis of Treacher-Collins syndrome in which micrognathia and other facial and ear abnormalities were described using a three- and...
OBJECTIVE
We present a case with prenatal diagnosis of Treacher-Collins syndrome in which micrognathia and other facial and ear abnormalities were described using a three- and four-dimensional (3D/4D) ultrasonography in utero.
CASE REPORT
A 39-year-old Japanese pregnant woman was referred because of polyhydramnios at 29 weeks' gestation. Conventional ultrasonography showed a hypoplastic mandible on the sagittal section of fetal head. Continuous observation using a 3D ultrasonography additionally demonstrated bilateral downslanting palpebral fissures with symmetry and macrostomia as well as micrognathia. Both ears were microtia and no polydactyly or missing fingers were found.
CONCLUSION
The advantage of the rendering mode of 3D images covering entire face including ears and limbs was enhanced by a continuous observation, so called 4D ultrasonography, under a condition of polyhydramnios, providing visual diagnosis in utero.
Topics: Abnormalities, Multiple; Adult; Female; Gestational Age; Humans; Imaging, Three-Dimensional; Magnetic Resonance Imaging; Mandibulofacial Dysostosis; Micrognathism; Polyhydramnios; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Rare Diseases; Syndrome; Ultrasonography, Doppler; Ultrasonography, Prenatal
PubMed: 31307753
DOI: 10.1016/j.tjog.2019.05.024