Cleft lip/palate

Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.

Overlapping fingers

A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.


Total: 6

                       


(per page)
PMID (PMCID)
29278735
 FEMALE Infant
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia.
Jacquinet A, Brown L, Sawkins J, Liu P, Pugash D, Van Allen MI, Patel MS.
Eur J Med Genet. 2018;61(5):257-261.
With only one previously described homozygous RAD51C variant to date, our findings expand the phenotypic spectrum of FANCO and suggest it should be part of the antenatal differential diagnosis for trisomy 13 and 18, due to the presence of atypical findings such as cleft lip and palate, holoprosencephaly, growth restriction and overlapping fingers.
29278735
 FEMALE Infant
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia.
Jacquinet A, Brown L, Sawkins J, Liu P, Pugash D, Van Allen MI, Patel MS.
Eur J Med Genet. 2018;61(5):257-261.
Antenatal ultrasounds identified symmetrical intrauterine growth retardation, complex heart defect as well as brain anomalies, overlapping fingers and cleft lip and palate.
14632567
 MALE Infant, Newborn
A tetraploid liveborn neonate: cytogenetic and autopsy findings.
Nakamura Y, Takaira M, Sato E, Kawano K, Miyoshi O, Niikawa N.
Arch Pathol Lab Med. 2003;127(12):1612-4.
Autopsy findings included cleft lip and palate; overlapping fingers; low-set ears; simian creases; hypoplastic external genitalia with undescended testes; Dandy-Walker malformation; slightly dilated lateral and third ventricles; hypoplasia of the cerebrum, pons, medulla, pituitary gland, thymus, lung, adrenal gland, and kidney; large ventricular septal defect; and enteric cyst behind the urinary bladder.
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.
9621382
 FEMALE Adult
Twin pregnancy discordant for trisomy 14 mosaicism: prenatal sonographic findings.
Sepulveda W, Monckeberg MJ, Be C.
Prenat Diagn. 1998;18(5):481-4.
We present a case of a dichorionic twin pregnancy in which prenatal sonography at 24 weeks' gestation showed that one of the twins had several anomalies including intrauterine growth restriction, alobar holoprosencephaly, a cleft lip and palate, a recessive chin, a small stomach, overlapping fingers, a ventricular septal defect, and polyhydramnios.
2037693
 MALE Infant
18q-syndrome with cleft lip and palate. A clinically diagnosed case.
Fujimoto S, Hida K, Tateishi A, Nakashima T, Kameyama Y, Yamada N.
J Craniomaxillofac Surg. 1991;19(2):61-3.
The patient presented cleft lip and palate, narrow auditory canals, overlapping fingers, undescended testes and micropenis.