Table 1.
Review of literature on LADD syndrome
| Reference | Age | Family history | Involved organs | Gene | Pathologic variant | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| F#(ind) | Lacrimal | Auricular/Hearing | Salivary | Dental | Digital/Limb | Other | ||||
| Levy (1967) | F1(1) | |||||||||
| 12 years | − | + | +/NR | + | + | + | ||||
| Hollister et al. (1973) | F1(6) | |||||||||
| 15 months | + | + | +/+ | NR | + | + | Congenital hip dislocation | |||
| 4 years | + | + | +/+ | NR | + | + | Left renal agenesis | |||
| 6 years | + | + | +/+ | NR | + | + | ||||
| 11 years | + | − | +/+ | NR | + | + | ||||
| 17 years | + | + | +/+ | NR | + | + | ||||
| 43 years | + | + | +/+ | NR | + | + | ||||
| Shiang and Holmes (1977) | F1(2) | |||||||||
| 21 y | + | + | −/− | + | + | + | Hypertension, nephrosclerosis | |||
| NR | + | + | −/+ | − | + | + | Diabetes mellitus | |||
| Thompson et al. (1985) | F1(2) | |||||||||
| 6 years | + | + | +/+ | + | + | + | Hiatus hernia, asthma | |||
| 32 years | + | + | +/+ | + | + | − | Stillbirth of second child | |||
| Kreutz and Hoyme (1988) | F1(3) | |||||||||
| 9 years | + | + | +/+ | NR | + | + | ||||
| NR | + | − | +/− | NR | + | + | ||||
| 18 hr | + | − | +/NR | NR | NR | + | Hyaline membranous disease, death | |||
| Roodhooft et al. (1990) | 11 years | − | + | +/− | − | + | + | Caliectasis and lithiasis of kidneys, Henoch‐Schonlein purpura with nephrotic syndrome | ||
| Lacombe et al. (1993) | F1(2) | |||||||||
| 22 months | + | + | +/+ | NR | + | + | Delayed psychomotor development, facial dysmorphism | |||
| 25 years | + | − | −/− | NR | + | + | Split foot deformity, split hand deformity | |||
| Ostuni et al. (1995) | F1(2) | |||||||||
| 24 years | + | + | +/NR | + | + | + | Facial dysmorphism, ptosis, bifid uvula | |||
| 4 years | + | + | NR/NR | NR | NR | + | ||||
| Azar et al. (2000) | 5 years | − | + | +/+ | NR | + | + | Bilateral hydronephrosis, epiglottic hypoplasia, micrognathia, undescended testicle, delayed psychomotor development | ||
| Meuschel‐Wehner et al. (2002) | 13 years | − | + | −/+ | + | + | + | Scoliosis, inner ear dysplasia | ||
| Ramirez and Lammer (2004) | F1(8) | |||||||||
| 6 years | + | − | +/− | + | + | + | Cleft lip and palate | |||
| 9 years | + | − | +/+ | NR | + | + | Pneumothorax, pulmonary hypertension, PDA, bilateral hydronephrosis and vesicoureteral reflux | |||
| NR | + | + | +/NR | NR | + | + | Vesicoureteral reflux, hydronephrosis, small scarred kidney, bicornuate uterus | |||
| NR | + | − | NR/NR | NR | + | + | ||||
| NR | + | NR | +/NR | NR | + | + | ||||
| NR | + | − | +/NR | NR | + | + | ||||
| NR | + | − | +/NR | NR | + | + | Arthritis (hands) | |||
| NR | + | NR | −/NR | NR | + | + | Congenitally blind (unknown cause) | |||
| Lehotay et al. (2004) | 13 years | − | NR | +/+ | + | + | + | Midfacial hypoplasia, delayed speech development | ||
| Haktanir et al. (2005) | F1(3) | |||||||||
| 14 years | + | + | +/+ | + | + | + | Ptosis, nail dysplasia, epilepsy, hypocalcemia, basal ganglia calcification | |||
| NR | + | NR | NR/+ | + | NR | + | ||||
| NR | + | + | NR/NR | NR | NR | NR | ||||
| Rohmann et al. (2006) | F1(7) | + | + | +/+ | − | + | + | Facial dysmorphism | FGFR2 |
c.1947‐AGA‐1949 del (p.R649S_D650del) |
| F2(6) | + | − | +/+ | − | + | + | FGFR2 | c.1942G>A (p.A648T) | ||
| F3(6) | + | + | +/+ | + | + | + | FGFR2 | c.1942G>A (p.A648T) | ||
| F4(1) | − | + | +/+ | + | + | + | FGFR2 | c.1882G>A (p.A628 T) | ||
| F5(4) | + | + | +/NR | NR | + | + | FGF10 | c.317G>T (p.C106F) | ||
| F6(3) | + | + | +/+ | − | + | + | Facial dysmorphism | FGFR3 | c.1537G>A (p.D513N) | |
| Milunsky et al. (2006) | F1(1) | |||||||||
| 3 years | − | + | +/− | + | + | + | Facial dysmorphism | FGF10 | c.467 \T>G (p. I156R) | |
| F2(2) | ||||||||||
| 19 years | + | + | −/− | + | + | − | ALSG | FGF10 | c.409A>T (p.K137X) | |
| 2 years | + | − | −/− | + | + | + | LADD | FGF10 | c.409A>T (p.K137X) | |
| F1(8) | ||||||||||
| Inan et al. (2006) | 13 years | + | + | +/+ | + | + | + | Facial dysmorphism, choanal atresia, ptosis, nail dysplasia, epilepsy, hypocalcemia | ||
| NR | + | − | − | − | + | − | ||||
| NR | + | − | − | + | − | − | ||||
| 19 years | + | − | −/+ | + | + | + | Epilepsy | |||
| 21 years | + | + | −/− | + | NR | NR | ||||
| NR | + | NR | −/− | NR | NR | + | ||||
| NR | + | NR | −/− | NR | + | NR | Divergent exotropia, anosmia | |||
| 4 years | + | − | −/− | − | + | + | ||||
| Guven et al. (2008) | F1(3) | |||||||||
| 17 years | + | + | +/+ | − | + | + | ||||
| 10 years | + | + | +/+ | − | + | + | ||||
| 45 years | + | + | −/+ | NR | + | + | ||||
| McKenna et al. (2009) | 12 years | − | − | +/− | − | + | + | Ptosis, chin deviation | ||
| Mathrawala and Hegde (2011) | 7 years | − | + | +/+ | + | + | + | Hydrocele, hypoplastic first rib, palpitations | ||
| Moses (2013) | 1.4 years | − | + | +/+ | + | + | + | Cervical vertebra fusion, hemivertebra, wide foramen magnum, inner ear dysplasia | ||
| Pathivada et al. (2016) | 7 years | NR | + | +/− | + | + | − | |||
| Hajianpour et al. (2017) | F1(3) | |||||||||
| 9 years | + | + | −/− | + | + | + | Facial dysmorphism, FTT, joint hypermotility | FGFR2 | Exon 15 and 16 del | |
| 2 years | + | + | −/− | + | − | − | Hypospadias, hypotonia, gross motor delay | FGFR2 | Exon 15 and 16 del | |
| NR | + | + | −/− | + | + | + | Strabismus, joint hypermobility | FGFR2 | Exon 15 and 16 del | |
| F2(3) | ||||||||||
| 3 years | + | + | +/− | + | + | + | Dolichocephaly, facial dysmorphism, micrognathia | FGF10 | c.401T>A (p.M134K) | |
| NR | + | + | −/− | + | + | NR | ||||
| NR | + | + | −/− | + | + | NR | Eczematous dermatitis, toenail dysplasia | FGF10 | c.401T>A (p.M134K) | |
| Talebi et al. (2017) | F1(2) | |||||||||
| 23 years | + | + | +/+ | NR | + | + | FGFR3 | c.1882G>A (p.D628N) | ||
| NR | + | + | +/+ | NR | NR | + | FGFR3 | c.1882G>A (p.D628N) | ||
| Present study (2020) | F1(2) | |||||||||
| 10 years | + | + | +/+ | + | + | + | FGFR2 | c.1547C>T (p.A516V) | ||
| NR | + | NR | NR | + | + | NR | FGFR2 | c.1547C>T (p.A516V) | ||
Abbreviations: F#, family number; FGF, fibroblast growth factor;FGFR, fibroblast growth factor receptors; ALSG, aplasia of the lacrimal and salivary glands; FTT, failure to thrive; ind, number of individuals; NR, not recorded; PDA, patent ductus arteriosus.