Interatrial communication

Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart.

Micrognathia

Developmental hypoplasia of the mandible.


Total: 15

                       


(per page)
PMID (PMCID)
28336463
 FEMALE Infant
Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly - A case report.
Westphal DS, Andres S, Beitzel KI, Makowski C, Meitinger T, Hoefele J.
Gene. 2017;616:41-44.
The female patient presented with microcephaly, seizure, hypogenesis of corpus callosum, postaxial hexadactyly, an atrial septal defect, a ventricular septal defect, hypertelorism, a long and smooth philtrum, thin vermilion borders, and micrognathia, all common features of microdeletion 1q44.
23834556
 MALE
A case of 22q11.2 deletion syndrome with right microphthalmia and left corneal staphyloma.
Tarlan B, Kiratli H, Klc E, Utine E, Boduroglu K.
Ophthalmic Genet. 2014;35(4):248-51.
Systemic findings included growth deficiency, microcephaly, micrognathia, ventricular septal defect, atrial septal defect and right renal agenesis.
24442548
 MIXED_SAMPLE Infant
Fraccaro syndrome: report of two Iranian cases: an infant and an adult in a family.
Hadipour F, Shafeghati Y, Bagherizadeh E, Behjati F, Hadipour Z.
Acta Med Iran. 2013;51(12):907-9.
We reported a 10 month-old boy who has hypotonia, microcephaly, hypertelorism, depressed nasal bridge, epicanthic folds and bilateral multiple ear tags, high arched palate, down set ears, micrognathia and congenital heart disease such as patent ductus arteriosus (PDA), Atrial septal defect (ASD), mild pulmonary stenosis.
21910224
(3183328)
 MALE
Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.
Gripp KW, Hopkins E, Johnston JJ, Krause C, Dobyns WB, Biesecker LG.
Am J Med Genet A. 2011;155A(10):2516-20.
TARP syndrome, comprising Talipes equinovarus, atrial septal defect (ASD), Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.
22470768
 MALE Infant, Newborn
Rare combination of frontonasal and bilateral naso-orbital encephaloceles.
Alexander AA, Saettele MR, L'heureux D, Shah PA, Fickenscher KA.
J Radiol Case Rep. 2011;5(11):1-7.
Our case profiles a child born at term with an atrial septal defect (ASD), micrognathia, cleft lip, and frontonasal as well as bilateral naso-orbital encephaloceles.
19760655
 MIXED_SAMPLE Infant
Inherited 14q duplication and 21q deletion: a rare adjacent-2 segregation in multiple family members.
Dave BJ, Olney AH, Zaleski DH, Pickering DL, Becker TA, Chipman HE, Sanger WG.
Am J Med Genet A. 2009;149A(10):2248-53.
Physical findings included prominent eyes, micrognathia, prominent and simple external ears, camptodactyly, contractures of the wrists, ankles, and hips, hypoplasia of the corpus callosum, prominent atria and occipital horns, cerebellopontine hypoplasia; and small atrial septal defect.
15793836
 FEMALE Infant, Newborn
A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome.
Ounap K, Ilus T, Bartsch O.
Am J Med Genet A. 2005;134(4):434-8.
She demonstrated disproportionate short stature with short limbs, a prominent and hairy forehead, thick eyebrows, synophrys, small upturned nose, full cheeks, micrognathia, and low set malformed and posteriorly rotated ears, short and webbed neck, hydrocephalus, Dandy-Walker malformation, spina bifida, complex heart defect (ventricular and atrial septal defect, malrotation, and interrupted aortic arch), omphalocele, polycystic kidneys, postaxial polydactyly of left hand, and generalized hirsutism; all signs have been associated with the dup(3q) syndrome previously.
14718135
 FEMALE Infant, Newborn
[De novo partial duplication of the distal segment of the long arm of chromosome 5 (q31--> qter). Report of a new case].
Carbonell Perez JM, Galan Gomez E, Saenz Hurtado J, Rodriguez Martinez L, Cardesa Garcia JJ, Martinez Frias ML.
An Pediatr (Barc). 2004;60(1):80-4.
The patient showed dysmorphic features (flat face, short and horizontal palpebral fissures, depressed and broad nasal bridge, wide nose with hypoplastic alae nasae, short and flat philtrum, high arched palate, micrognathia, anomalies of the ears), redundant adipose panniculus of the neck, proximal shortening of the limbs, flexion contractures, long and distally widened fingers, bilateral clubfoot, single umbilical artery, hypoplasia of lung and pulmonary arteries, atrial septal defect and patent ductus arteriosus.
12504768
 FEMALE Infant, Newborn
Valproic acid and lamotrigine treatment during pregnancy. The risk of chromosomal abnormality.
Ozkinay F, Cogulu O, Gunduz C, Yilmaz D, Kultursay N.
Mutat Res. 2003;534(1-2):197-9.
Dysmorphological features detected in baby were intrauterine growth retardation, hypertelorism, flattened nasal bridge, low set malformed auriculas, micrognathia, very small an bow-shaped mouth with thin upper lip, cleft palate, arachnodactyly, camptodactyly, secundum atrial septal defect, bilateral hammer toes and decreased creases on the soles.
10360518
 MIXED_SAMPLE Infant, Newborn
Prenatal findings in trisomy 16q of paternal origin.
Paladini D, D'Agostino A, Liguori M, Teodoro A, Tartaglione A, Colombari S, Martinelli P.
Prenat Diagn. 1999;19(5):472-5.
On prenatal ultrasound the following anomalies were detected: intra-uterine growth retardation, micrognathia, coarctation of the aorta with ventricular and atrial septal defects, ambiguous external genitalia, and clinodactyly of one hand with adducted thumb.
9068748
 MIXED_SAMPLE Infant, Newborn
Cutis marmorata telangiectatica congenita associated with an elevated maternal serum human chorionic gonadotrophin level and transitory isolated fetal ascites.
Chen CP, Chen HC, Liu FF, Jan SW, Chern SR, Wang TY, Hung HY.
Br J Dermatol. 1997;136(2):267-71.
After birth, the neonate had generalized cutis marmorata telangiectatica congenita (CMTC), large vascular plaques on the scalp with superficial ulceration and crusts, a small atrial septal defect, a patent ductus arteriosus, hepatomegaly, micrognathia, seizures, an abnormal electroencephalogram, congenital retinal detachment, glaucoma and widely spaced toes.
8219425
 FEMALE Infant
Adams-Oliver syndrome: cutis marmorata teleangiectatica congenita with multiple anomalies.
Frank RA, Frosch PJ.
Dermatology. 1993;187(3):205-8.
A 1-year-old female with the following multiple congenital anomalies is described: large vascular plaques on the scalp with atrophy and ulcerations, cutis marmorata and dilated veins on the trunk and extremities, short toes with partially missing phalanges and nails, retro- and micrognathia, strabismus convergens and atrial septal defect.
7684190
 MALE Infant
Characterization of a duplication in the terminal band of 4p by molecular cytogenetics.
Wyandt HE, Milunsky J, Lerner T, Gusella JF, Hou A, MacDonald M, Adekunle S, Milunsky A.
Am J Med Genet. 1993;46(1):72-6.
An infant with multiple anomalies including small head, large apparently low-set ears, beaked nose, micrognathia, choanal stenosis, proptosis, atrial-septal defect, and left inguinal hernia was found, on chromosome analysis, to have a longer than normal terminal band 4p16 by G and R-banding.
7439199
 MIXED_SAMPLE Infant, Newborn
A fetus with upper limb amelia, "caudal regression" and Dandy-Walker defect with an insulin-dependent diabetic mother.
Bruyere HJ Jr, Viseskul C, Opitz JM, Langer LO Jr, Ishikawa S, Gilbert EF.
Eur J Pediatr. 1980;134(2):139-43.
The anomalies include: upper limb amelia, "caudal regression" with bilateral absence of the fibulae, unilateral absence of a femur and ipsilateral oligodactyly; undescended testes; atrial septal defect; multiple vertebral and rib anomalies with cervical scoliosis and right webbed neck; left cleft lip and cleft palate; severe micrognathia; left microtia with atresia of the ear canal; and central nervous system defects including hydrocephalus with the Dandy-Walker malformation, asymmetry of the lateral ventricles, abnormal frontal gyral formation, and ependymal and ganglion cell heterotopias of the spinal cord.
819199
 MALE Infant
The problem of trisomy 22. A case report and a discussion of the variant forms.
Zellweger H, Ionasescu V, Simpson J, Burmeister L.
Clin Pediatr (Phila). 1976;15(7):601-6, 617-8.
The patient, a five-month-old male, showed failure to thrive, delayed psychomotor development, large, low-set ears, mild micrognathia, atrial septal defect, and marked muscular hypotonia.