|
Total: 26 |
|
| PMID (PMCID) | ||
|---|---|---|
|
24605928 |
FEMALE | Infant, Newborn |
| Atypical expanded-spectrum hemifacial microsomia: a case report. | ||
|
Magge KT, Kim J, Rogers GF, Oh AK. Cleft Palate Craniofac J. 2015;52(2):240-5. |
||
| Her craniofacial findings include holoprosencephaly, cleft lip and palate, low set and posteriorly rotated ears, flat midfacial features, micrognathia, left HFM with grade 1 microtia, hypoplastic mandible, and a small preauricular pharyngeal arch remnant. | ||
|
25846457 (4545386) |
MIXED_SAMPLE | Child |
| Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. | ||
|
Bayram Y, Aydin H, Gambin T, Akdemir ZC, Atik MM, Karaca E, Karaman A, Pehlivan D, Jhangiani SN, Gibbs RA, Lupski JR. Am J Med Genet A. 2015;167A(9):2132-7. |
||
| Additional characteristic features include short stature, micrognathia, posteriorly rotated low-set ears, hypertelorism, epicanthal folds, broad nasal tip, tongue hamartoma, upper lip notch, intraoral frenula, cleft lip/palate, and renal anomalies. | ||
|
21815259 |
MIXED_SAMPLE | Infant, Newborn |
| Potential teratogenic effects of allopurinol: a case report. | ||
|
Kozenko M, Grynspan D, Oluyomi-Obi T, Sitar D, Elliott AM, Chodirker BN. Am J Med Genet A. 2011;155A(9):2247-52. |
||
| The anomalies present in our patient include: diaphragmatic hernia, unilateral microtia and absence of external auditory canal, micrognathia, microphthalmia, optic nerve hypoplasia, hypoplasia of the corpus callosum, unilateral renal agenesis, pulmonary agenesis, and cleft lip and palate. | ||
|
19334090 |
FEMALE | Infant, Newborn |
| Intrauterine exposure to mycophenolate mofetil and multiple congenital anomalies in a newborn: possible teratogenic effect. | ||
|
Jackson P, Paquette L, Watiker V, Randolph L, Ramanathan R, Seri I. Am J Med Genet A. 2009;149A(6):1231-6. |
||
| Here we report on a late preterm infant with multiple, nonsyndromic, congenital anomalies including microtia/anotia, cleft lip and palate, micrognathia, ocular hypertelorism, microphthalmia and cataracts, complex congenital heart disease, rib anomalies, and intestinal malrotation. | ||
|
18074358 |
FEMALE | Adult |
| In utero exposure to mycophenolate mofetil: a characteristic phenotype? | ||
|
Perez-Aytes A, Ledo A, Boso V, Saenz P, Roma E, Poveda JL, Vento M. Am J Med Genet A. 2008;146A(1):1-7. |
||
| The newborn exhibited cleft lip and palate, bilateral microtia and atretic external auditory canals, chorioretinal coloboma, hypertelorism, and micrognathia. | ||
|
18074358 |
FEMALE | Adult |
| In utero exposure to mycophenolate mofetil: a characteristic phenotype? | ||
|
Perez-Aytes A, Ledo A, Boso V, Saenz P, Roma E, Poveda JL, Vento M. Am J Med Genet A. 2008;146A(1):1-7. |
||
| We conclude that in utero exposure to MMF can cause a characteristic phenotype and propose the existence of a mycophenolate-associated embryopathy whose main features are: cleft lip and palate, microtia with atresia of external auditory canal, micrognathia and hypertelorism. | ||
|
19753270 (2740530) |
OTHER | |
| Roberts-SC syndrome, a rare syndrome and cleft palate repair. | ||
|
Murthy J, Dewan M, Hussain A. Indian J Plast Surg. 2008;41(2):222-5. |
||
| The syndrome is characterized by multiple malformations, particularly, symmetrical limb reduction, craniofacial anomalies such as bilateral cleft lip and palate, micrognathia, and severe growth and mental retardation. | ||
|
18277563 |
MALE | Infant |
| [Airway access using an endotracheal tube changer for safe extubation in an infant with a difficult airway]. | ||
|
Kira S, Miyakawa H, Mori M, Hidaka S, Noguchi T, Fujisawa H. Masui. 2008;57(2):167-70. |
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| A 4-month-old male infant with bilateral cleft lip and palate, micrognathia, schizencephaly, undescended testis, and abnormality of chromosomes 10 was scheduled for bilateral cleft lip repair. | ||
|
17472040 |
FEMALE | |
| Dental findings and dental care management in trisomy 18: case report of a 13-year-old "long-term survivor". | ||
|
Ribeiro RR, dos Santos BM, Stuani AS, de Freitas AC, de Queiroz AM. Spec Care Dentist. 2006;26(6):247-51. |
||
| The major clinical features are cleft lip/palate, high-arched narrow palate, micrognathia, anterior open bite, posterior crossbite and taurodontism. | ||
|
16531737 |
MIXED_SAMPLE | Adult |
| Distinctive collection of fetal anomalies: cleft lip and palate, multicystic dysplastic kidneys, 1-2 syndactyly, heterotopic olivary tissue and thymic hypoplasia. | ||
|
Tan TY, Nazaretian S, McGillivray G, Simpson I, Bankier A. Clin Dysmorphol. 2006;15(2):101-5. |
||
| Clinical and pathological findings of bilateral cleft lip and palate, micrognathia, thymic hypoplasia, unilateral 1-2 finger syndactyly, bilateral multicystic dysplastic kidneys and heterotopic olivary tissue are presented. | ||
|
16323558 |
MALE | Infant, Newborn |
| Trisomy chromosome (22)(q13.1-qter) as a result of paternal inversion (22)(p11q13.1) proved using region-specific FISH probes. | ||
|
Hou JW. Chang Gung Med J. 2005;28(9):657-61. |
||
| We present a male infant with multiple congenital anomalies including severe growth retardation, microcephaly, hypertelorism, low-set ears, bilateral cleft lip and palate, micrognathia, cryptorchidism with hypospadias, hemivertebrae, and complex heart defects. | ||
|
11807893 |
MIXED_SAMPLE | Infant |
| Oculoauriculofrontonasal syndrome (OAFNS) in a nine-month-old male. | ||
|
Ishmael HA, Begleiter ML, Regier EJ, Butler MG. Am J Med Genet. 2002;107(2):169-73. |
||
| His malformations included a left pre-auricular skin tag, severely hypoplastic right pinna without an external canal, severely everted and hypoplastic left upper eyelid, bilateral cleft lip and palate, bifid broad nasal tip, ocular hypertelorism, micrognathia, hypoplastic mandible, an extra cervical rib on the left, hemivertebrae at T3-4, agenesis of the posterior corpus callosum with a midline lipoma, and an extra renal pelvis. | ||
|
12457411 |
FEMALE | Infant, Newborn |
| Three cases of tetrasomy 9p. | ||
|
Dhandha S, Hogge WA, Surti U, McPherson E. Am J Med Genet. 2002;113(4):375-80. |
||
| Facial characteristics include hypertelorism, broad nasal bridge/bulbous or beaked nose, cleft lip/palate, ear anomalies, and micrognathia. | ||
|
11715843 |
FEMALE | Adult |
| Prenatal diagnosis of der(11)t(11;18)(q24;q21.3) due to paternal balanced translocation and both parents are carriers of alpha-thalassemia-1--a case report. | ||
|
Chao MC, Yang SY, Chang Y, Huang YW, Liu TC, Lee JP, Chen BH. Kaohsiung J Med Sci. 2001;17(8):430-6. |
||
| The gross of fetus revealed bilateral cleft lip and palate, hypertelorism, flat nasal bridge, frontal bossing, micrognathia, low set ears, short neck with cystic hygroma, overlapping fingers, prominent heels, and limited hip abduction. | ||
|
10406666 |
FEMALE | |
| A 100-year-old anatomical specimen presenting with boomerang-like skeletal dysplasia: diagnostic strategies and outcome. | ||
|
Oostra RJ, Dijkstra PF, Baljet B, Verbeeten BW, Hennekam RC. Am J Med Genet. 1999;85(2):134-9. |
||
| The specimen described here dated from 1881 and presented with a general embryonic appearance, disproportionate short stature, brachycephaly, widened cranial sutures, hypertelorism, microphthalmia, bilateral cleft lip and palate, micrognathia, short and curved limbs, polysyndactyly, and abnormal female genitalia. | ||
|
9826899 |
FEMALE | Adult |
| Isochromosome 18q in a fetus with congenital megacystis, intra-uterine growth retardation and cloacal dysgenesis sequence. | ||
|
Chen CP, Chern SR, Lee CC, Town DD. Prenat Diagn. 1998;18(10):1068-74. |
||
| The abortus displayed dysmorphic features of a high forehead, hypertelorism, a prominent nose with a bulbous tip, median cleft lip and palate, micrognathia, low-set ears, a short neck, a joint contracture at the wrist, prominent heels and pseudo-hermaphroditism. | ||
|
9586550 |
MIXED_SAMPLE | Infant, Newborn |
| Prenatal diagnosis: evolution in craniofacial surgery. | ||
|
De Ponte FS, Bottini DJ, Maggi E, Marchetti E, Cascone P, Iannetti G. J Craniofac Surg. 1998;9(2):190-5. |
||
| We analyzed nine pregnancies (one twin) in which cleft lip and palate (CLP)--isolated or associated with, for example, holoprosencephaly, hypertelorism, and micrognathia--was diagnosed by ultrasonography. | ||
|
9783717 |
MALE | Infant, Newborn |
| Triophthalmia and facial clefting: a case report. | ||
|
Tayel SM, Sabry MA, Kader NA, Farah S, Al-Awadi SA, Farag TI. J Med Genet. 1998;35(10):875-7. |
||
| We describe a Libyan boy with an unusual phenotype of multiple congenital anomalies, including triophthalmia, dolichocephaly, porencephaly, cleft lip/palate, facial asymmetry, micrognathia, and VSD. | ||
|
8160751 |
FEMALE | Infant, Newborn |
| Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder in a newborn: a midline developmental field defect. | ||
|
Leichtman LG, Wood B, Rohn R. Am J Med Genet. 1994;50(1):39-41. |
||
| We describe an infant with a unique pattern of midline defects, including anophthalmia, cleft lip and palate, macrocephaly, cutis aplasia, and micrognathia. | ||
|
8456844 |
FEMALE | |
| Multiple craniofacial anomalies associated with an interstitial deletion of chromosome 1(q21->q25). | ||
|
Leichtman LG, Strum D, Brothman AR. Am J Med Genet. 1993;45(6):677-8. |
||
| Significant malformations included: microbrachycephaly, bilateral cleft lip and palate, micrognathia, short neck, and athyroidia. | ||