|
Total: 26 |
|
| PMID (PMCID) | ||
|---|---|---|
|
9590878 |
MALE | |
| The Robin sequence associated with partial maxillary duplication and multiple facial clefts: a case report. | ||
|
Mafeni JO. Afr Dent J. 1993;7:31-4. |
||
| A case is presented of a male child of recent Yugoslav immigrants born with bilateral facial clefts, bilateral cleft lip and palate and severe micrognathia. | ||
|
2801764 |
FEMALE | Infant, Newborn |
| Acrofacial dysostoses. | ||
|
Le Merrer M, Cikuli M, Ribier J, Briard ML. Am J Med Genet. 1989;33(3):318-22. |
||
| A female baby was born with phocomelia, bilateral cleft lip and palate, marked micrognathia, malar hypoplasia, absence of lower eyelids, and absence of external ears. | ||
|
4024943 |
MALE | Infant |
| Familial occurrence of oligomeganephronia. | ||
|
Kusuyama Y, Tsukino R, Oomori H, Kuribayashi K, Katayama H, Koike M, Saito K. Acta Pathol Jpn. 1985;35(2):449-57. |
||
| In addition, the two patients had similar multiple anomalies; microcephaly, prominent glabella, hypertelorism, antimongoloid slant, epicanthal folds, broad nose, cleft lip and palate, down-turned mouth, short philtrum, micrognathia, low set ears, hypospadias, and cryptorchism. | ||
|
7267231 |
MIXED_SAMPLE | Infant, Newborn |
| New syndrome in three affected siblings. | ||
|
Crane JP, Heise RL. Pediatrics. 1981;68(2):235-7. |
||
| Major features include: (1) poorly mineralized calvarium, (2) dysmorphic facies (cleft lip and palate, micrognathia, upturned nares, apparent ocular hypertelorism), and (3) extracranial and musculoskeletal anomalies (absence of cervical vertebrae and clavicles, talipes equilnorvarus, and soft tissue syndactyly). | ||
|
6974525 |
MIXED_SAMPLE | Infant, Newborn |
| Terminal deletion of the long arm of chromosome 4. Report of a case of 46, XY, del(4)(q31) and review of 4q- syndrome. | ||
|
Yu CW, Chen H, Baucum RW, Hand AM. Ann Genet. 1981;24(3):158-61. |
||
| The infant had hypertelorism, epicanthal folds, depressed nasal bridge, short nasal septum with upturned nose, bilateral open cleft lip and palate, retro- and micrognathia, low set, malformed ear, short neck, distally placed nipples, a sacral dimple, hypospadias, dysplastic nails, overriding toes, simian creases, patterns on interdigital and hypothenar areas, hypoplasia of gallbladder, and cardiac defects consisting of tricuspid atresia, left sided vena cava and anomalous aortic arch. | ||
|
1084124 |
MALE | Infant, Newborn |
| Trisomy iop. | ||
|
Yunis E, Silva R, Giraldo A. Ann Genet. 1976;19(1):57-60. |
||
| The clinical picture included growth retardation, bilateral cleft lip and palate, micrognathia, short neck, microphalus and bilateral clubbed feet. | ||